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How to use genetic testing after sudden infant death syndrome
Since the early 1990s, the rate of sudden infant death syndrome (SIDS) has reduced by over 80% in the UK, principally due to public health education regarding safer sleep, in particular the ‘Back-to-Sleep’ campaign, and to a smaller degree the introduction of newborn screening for metabolic conditions.1 2 Despite this, SIDS is still one of the leading causes of postneonatal infant death in developed countries. The triple risk hypothesis states that SIDS occurs due to having (1) a vulnerable infant (2) during a critical development period and (3) a minor exogenous stressor (figure 1). Genetic testing is likely t...
Source: Archives of Disease in Childhood - Education and Practice - September 19, 2022 Category: Pediatrics Authors: Bryson, L. J., Joss, S. Tags: Research in Practice Source Type: research

Small molecule drugs in cystic fibrosis
Introduction Cystic fibrosis (CF) is the most common inherited genetic disease in the Caucasian population, affecting more than 10 000 people in the UK. Discovered in 1989, the underlying pathology is a defect in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene on chromosome 7 and the subsequently produced protein. More than 2000 mutations have been identified. Prior to the development of therapies targeting the CFTR protein, treatment has focused on preventing and treating the result of this defect including thick secretions, recurrent infections and failure to thrive. This is a significant treatment bu...
Source: Archives of Disease in Childhood - Education and Practice - September 19, 2022 Category: Pediatrics Authors: Hine, C., Nagakumar, P., Desai, M. Tags: Editor's choice, Research in Practice Source Type: research

Improving the admission temperatures of preterm infants in the neonatal unit
Use of plan-do-study-act cycles to increase the proportion of preterm infants born at <32 weeks’ gestation admitted to a neonatal unit with a body temperature of 36.5–37.4°C. (Source: Archives of Disease in Childhood - Education and Practice)
Source: Archives of Disease in Childhood - Education and Practice - September 19, 2022 Category: Pediatrics Authors: Keir, A. K., Cavallaro, A. Tags: Quality improvement Source Type: research

The joy of doing it
This column has already highlighted the pitfalls of striving for perfection. The medic is often encouraged to achieve beyond other mortals. Long hours, physical and mental pressure are a routine part of the job. Although striving for better is an admirable quality in medicine, I would encourage you to disregard such high standards outside of work. Doing something different from your day-to-day job can bring many benefits.1 Hobbies and time outside are linked to better mood and doing something new promotes creativity,2 confidence and openness.3 It is important to remind oneself that you do not need to be good at your new in...
Source: Archives of Disease in Childhood - Education and Practice - September 19, 2022 Category: Pediatrics Authors: Furnell, C. Tags: Wellbeing at work Source Type: research

Perioral swelling in a previously well child
A previously well 7-year-old girl presented with a 6-week gradual history of progressive lip swelling with oral mucosal discomfort (figure 1). There was no precipitating factor identified. She was systemically well. There was no history of mucosal ulceration, abdominal pain, diarrhoea, skin rashes, atopy or weight loss. She recently received oral antibiotics for the perioral swelling with little effect and was on no regular medication. There was no significant family history including autoinflammatory conditions nor exposure to tuberculosis. Examination revealed weight and height on second centiles. Perioral inspection rev...
Source: Archives of Disease in Childhood - Education and Practice - September 19, 2022 Category: Pediatrics Authors: Walker, R., Ferris, K., Scott, M., McMahon, N., Szabo, A., Dick, A. C., Christie, S., Mallett, P. Tags: Epilogue Source Type: research

Infant with rapidly progressive respiratory distress
A 7-month-old girl presented to the emergency department with a 12-hour history of difficult breathing. The girl was alert but with a severe tachy-dyspnoea, chest retractions and nodding. Vital signs showed: respiratory rate 70/min, pulse rate 150/min and oxygen saturation 92% on room air. At chest auscultation, mild bilateral basal crackles were noted. Repeated albuterol inhalations, systemic steroid and oxygen administration through high flow nasal cannula were administered, but respiratory distress worsened in the next 2 hours. Capillary blood gas analysis showed: pH 7.37 pCO2 27 mm Hg, HCO3 17 mm Hg. A chest radiograph...
Source: Archives of Disease in Childhood - Education and Practice - September 19, 2022 Category: Pediatrics Authors: Pintaldi, S., Servidio, A. G., Bobbo, M., Chicco, D., Calligaris, L., Barbi, E., Cozzi, G. Tags: Epilogue Source Type: research

Unusual case of stroke in childhood
You receive a prealert call from a paramedic team stating they are managing a 12-year-old girl with acute left-sided weakness. As you prepare for the patient’s arrival, you go through a list of potential differentials. Question 1 Which of the following is not part of the differential list? Haemorrhagic stroke. Hypoglycaemia. Bell’s palsy. Migraine. Todds’ paresis. Question 2 What is the recommended time to CT following this type of presentation to the emergency department? 15 min. 40 min. 60 min. 120 min. The time to CT is only applicable to adult patients. The family report intermittent frontal headaches...
Source: Archives of Disease in Childhood - Education and Practice - September 19, 2022 Category: Pediatrics Authors: Mawhinney, D. C., Mullen, S., Clarke, N. Tags: Epilogue Source Type: research

Accentuate the Gram positive: an unusual infection in an oncology patient
A 3-year-old boy was diagnosed with Wilms tumour. A central line was inserted and treatment was commenced as per the Children’s Cancer and Leukaemia Group preoperative guidelines for Wilms tumour, following which a nephrectomy was performed. During week 7 of postoperative chemotherapy with vincristine and actinomycin, he developed a fever of 38.5°C at home and was immediately brought to hospital. Question 1 Which of the following scenarios would cause you to delay administration of broad spectrum antibiotics? A nurse remeasures his temperature and it is 37.5°C On clinical assessment he is well and has only mi...
Source: Archives of Disease in Childhood - Education and Practice - September 19, 2022 Category: Pediatrics Authors: Kemp, N., Malpas, T., Bate, J. Tags: Epilogue Source Type: research

Cardiac or respiratory cause of hypoxia in a newborn
A term baby boy was delivered overnight by emergency caesarean section for pathological cardiotocography. An uncle died in childhood due to ‘a problem with the aorta’. After initial cry, he required resuscitation including chest compressions. He was stabilised on nasal continuous positive airway pressure therapy (nCPAP). Oxygen saturations remained labile with a notable preductal and postductal gradient of 10% with brief preductal saturations of greater than 90%. Cardiovascular examination was normal. A chest X-ray was taken at 2 hours of life (figure 1). Question 1 ‘Egg on a string sign’ suggests w...
Source: Archives of Disease in Childhood - Education and Practice - September 19, 2022 Category: Pediatrics Authors: McKenna, M., Batchelor, G., O'Connor, B., McGowan, M., Conn, R. L. Tags: Epilogue Source Type: research

The role of paediatricians in specialist nurse training: a community child health example
Specialist and advanced nursing roles have started to emerge in paediatrics and paediatricians may be asked to support nurses through their training. While there are specific training programmes for some areas of practice eg, neonatology, there are currently no programmes for others. Paediatricians may therefore find themselves being asked to train nurse specialists outside a formal training programme, or to provide the clinical specialty component linked to a generic MSc course, where the paediatrician may be required to devise a training curriculum specific to their area of practice. Using community child health as an ex...
Source: Archives of Disease in Childhood - Education and Practice - September 19, 2022 Category: Pediatrics Authors: Ni Bhrolchain, C. Tags: Learning and teaching Source Type: research

Embracing excellence in healthcare: the role of positive feedback
Embracing failure for the purpose of learning is a key trait in successful teams. Failure, however, is not the only source of learning. The majority of interventions in healthcare are successful, yet our prevailing efforts to extract learning intelligence tend to focus almost exclusively on failures, such as harm and errors. By considering the learning potential across the whole landscape of work from success to failure, we can widen the range of learning opportunities. The key steps to learn from excellence are first to recognise excellence, which can be highly subjective, and second to provide positive feedback. Positive...
Source: Archives of Disease in Childhood - Education and Practice - September 19, 2022 Category: Pediatrics Authors: Plunkett, A. Tags: Learning and teaching Source Type: research

Fifteen-minute consultation: Emergency management of children presenting with hyperkalaemia
Hyperkalaemia can lead to life-threatening cardiac arrhythmias. A good understanding of the physiological basis of management can help us rationalise treatment and reduce plasma potassium levels efficiently and effectively. Management focuses on avoidance of arrythmias, rapid intracellular movement of potassium and finally reduction of total body potassium. Fluid management in hyperkalaemia should be carefully considered, with balanced solutions providing theoretical benefits compared to 0.9% saline in certain situations. (Source: Archives of Disease in Childhood - Education and Practice)
Source: Archives of Disease in Childhood - Education and Practice - September 19, 2022 Category: Pediatrics Authors: Rubens, M., Kanaris, C. Tags: Best practice and Fifteen Minute Consultations Best practice and Fifteen-minute consultations Source Type: research

Fifteen-minute consultation: How to approach the withdrawal of neonatal intensive care
This article aims to provide an overview of the key factors that should be considered during this process. It explores the practicalities of care delivery that reflects the psychological impact of undergoing end-of-life care on parents and team members. It will also highlight the role of clinical genetics that can be used to understand the underlying disease pathology and therefore can be a valuable tool in the difficult decision-making process. (Source: Archives of Disease in Childhood - Education and Practice)
Source: Archives of Disease in Childhood - Education and Practice - September 19, 2022 Category: Pediatrics Authors: Premadeva, I., Gardham, A., Faller, A., Selkirk, L. Tags: Best practice and Fifteen Minute Consultations Best practice and Fifteen-minute consultations Source Type: research

Fifteen-minute consultation: Intubation of the critically ill child presenting to the emergency department
Intubation of critically ill children presenting to the emergency department is a high-risk procedure. Our article aims to offer a step-by-step guide as to how to plan and execute a rapid, successful intubation in a way that minimises risk of adverse events and patient harm. We address considerations such as the need for adequate resuscitation before intubation and selection of equipment and personnel. We also discuss drug choice for induction and peri-intubation instability, difficult airway considerations as well as postintubation care. Focus is also given on the value of preintubation checklists, both in terms of equipm...
Source: Archives of Disease in Childhood - Education and Practice - September 19, 2022 Category: Pediatrics Authors: Kanaris, C., Murphy, P. C. Tags: Best practice and Fifteen Minute Consultations Best practice and Fifteen-minute consultations Source Type: research

Fifteen-minute consultation: Cardiac murmurs in the Newborn Infant Physical Examination (NIPE)
This article aims to provide an approach to this common finding, in particular, reviewing the evidence base behind features of the history, examination and subsequent non-specialist investigations which may increase the likelihood of CHDs. The aim of this structured approach is to give clinicians confidence in dealing with this common clinical finding, to be able to pick out those infants most at risk of having critical CHDs. (Source: Archives of Disease in Childhood - Education and Practice)
Source: Archives of Disease in Childhood - Education and Practice - September 19, 2022 Category: Pediatrics Authors: Oswal, A., Holman, J. Tags: Best practice and Fifteen Minute Consultations Best practice and Fifteen-minute consultations Source Type: research