Irish journal of medical science
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Investigation of patients, particularly children, with unexplained global developmental delay (GDD)/learning disability (LD) has been challenging due to a lack of clear guidance from specialised centres. Limited knowledge of rare diseases and a poor understanding of the purpose or limitations of appropriate investigations have been some of the principal reasons for this difficulty. ⋯ It is hoped that these recommendations will become national guidelines for the first line metabolic, genetic and radiological investigation of patients presenting with unexplained GDD/ID.
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Review
A review of consanguinity in Ireland--estimation of frequency and approaches to mitigate risks.
Over half of marriages are consanguineous in some countries, and about 10 % of children worldwide have consanguineous parents. Perceived benefits of consanguineous marriage (CM) include preservation of tradition, stronger family ties, financial advantages, and bride protection. Potential harms include autosomal recessive disorders, complex congenital malformations, stillbirths, postnatal mortality. There have been no population-based data published on frequency of CM in Ireland since 1970. ⋯ Consanguineous couples desire accurate information for reproductive decisions, but may avoid hospital-based services due to language barriers, poor understanding, stigma. Uptake of genetic counselling and carrier testing is higher if a family-centred approach is provided, ideally through home visits in the couple's preferred language. Targeted education programmes enhance community awareness and have led to declines in CM elsewhere. Education of HCPs is necessary to clarify referral pathways, as many have exaggerated impressions of the genetic risks.
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Increasing demand exists for blended approaches to the development of professionalism. Trainees of the Royal College of Physicians of Ireland participated in an online patient safety programme. ⋯ An online training programme on medical error improved self-rated knowledge, attitudes and skills in junior doctors and was deemed an effective learning tool. Perceptions of work issues such as a poor culture of error reporting among doctors may prevent improved attitudes being realised in practice. Online patient safety education has a role in practice-based initiatives aimed at developing professionalism and improving safety.
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The advent of laparoscopic surgery has facilitated the management of acute appendicitis in the adult population. In the paediatric population (<12 years), management varies according to institution and/or consultant expertise. The aim of this study was to analyse consultant preference for laparoscopic versus open appendicectomy in the management of acute appendicitis in children under 12 years presenting to general hospitals. ⋯ This study has shown wide variability amongst consultant general surgeons when considering open versus laparoscopic appendicectomy in children under 12 years. Restricted access to specialist paediatric laparoscopic equipment, combined with declining exposure to paediatric surgical training, may continue to limit the numbers of paediatric laparoscopic appendicectomies performed in the general setting.
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The discharge document summarising an acute inpatient stay in hospital is often the only means of communication between secondary and primary care. This is especially important in the elderly population who have multiple morbidities and are often on many medications. ⋯ This study showed that the information assessed was available in the vast majority of discharge summaries for patients admitted acutely under the care of this medicine for the elderly service. Improvements can be made, including documentation of follow-up plans.