Archives of Disease in Childhood-Education and Practice Edition最新文献

Worldwide, approximately 80% of rare diseases are thought to have an inherited component. Of these, around 75% of the individuals are children. Therefore, the application of genomic technologies in paediatric care is inevitable. Genomic testing approaches such as whole genome sequencing have the potential to diagnose, and therefore treat, children and young people living with rare conditions. The prospective power of genomic screening, enabling interventions before a child's health deteriorates, is arguably even more profound. However, despite the obvious benefits of the use of genomics in paediatrics, there are considerable challenges and complexities associated with the successful integration and mainstreaming of genomic testing, including the impact on ways of working, developing an understanding and knowledge of genomics, and navigating the associated NHS (National Health Service) genomics infrastructure. Here, we set out current frameworks, practical education and training resources, and future strategies which could be adopted to support the paediatric workforce in embedding genomics into clinical practice to ultimately improve child health outcomes.

Herpes simplex virus (HSV) infection in children is a common and challenging disease characterised by frequent misdiagnosis, a variety of treatment protocols and frequent recurrences from latent infection. With potential consequences such as pain, disfigurement, self-esteem issues, school exclusion and vision loss in eye disease, early diagnosis, informed management and appropriate interventions to prevent recurrences are essential.Management of HSV disease typically involves the use of oral antivirals for cutaneous disease and a combination of oral and topical treatment for eye disease. For children with recurrent disease, management options include episodic or chronic suppressive treatment for cutaneous disease, while longer-term suppressive therapy is often recommended for eye disease.

Performing and interpreting otoscopy is a core clinical skill for any healthcare practitioner who looks after children. However, training and experience can vary hugely, which affects the accuracy of diagnosis. This article aims to succinctly explain how to correctly perform and interpret findings of otoscopy. We include clinical examples of hearing loss, fever and the recurrent or persistently discharging ear.

Child protection medical assessments (CPMAs) are carried out to seek evidence of abuse or neglect and for this reason many paediatricians find them daunting. In this article we explore how CPMAs differ from routine clinical assessments of children. We describe how preparation can help ensure the assessment goes smoothly and provide tips for communication with the child and carer. We also highlight the importance of self-care for clinicians working in this emotive area of paediatrics. We conclude by sharing some pitfalls and how practitioners can overcome them.

Pertussis (whooping cough) is a bacterial infection caused by the organism Bordetella pertussis It can lead to severe illness and death, especially in neonates and young infants. Pre-vaccination, pertussis was a major contributor to childhood morbidity and mortality. Despite global vaccination programmes, it remains a considerable public health challenge. Infants at high risk of infection presenting with cough and/or apnoea with a peripheral hyperleucocytosis due to lymphocytosis should be investigated and managed with caution. It is important for clinicians to recognise the risk of severe disease in young infants and test symptomatic patients rapidly to guide treatment decisions and inform public health response. The testing of asymptomatic persons or close contacts is not routinely recommended. Antimicrobial treatment, usually an oral macrolide, is recommended for infants, close contacts of symptomatic patients and individuals at risk of severe disease to decrease both severity and the infectious period. Preventative strategies such as immunisation programs encompassing vaccination during each pregnancy, childhood immunisation and considering lifelong additional pertussis vaccine booster doses for adults (especially when in close contact with infants and other vulnerable persons) are important patient-centred public health strategies for clinicians.