Going home: Clinician perspectives on decision-making in paediatric home mechanical ventilation.

AIM: Despite a recent increase in the use of ventilators in the home setting for children with chronic respiratory failure, there is currently no unified approach for clinical decision-making for children requiring long-term mechanical ventilation. The purpose of this study is to understand the clinician's perspective on decision-making around home ventilation for children, and how home-based care contributes to successful outcomes in this population. METHODS: We recruited physicians and home ventilation nurses with at least 2 years' experience working in an Australian paediatric tertiary home ventilation service using professional networks and snowball sampling. Semi-structured interviews were conducted by two researchers between February 2019 and June 2020. Interviews were audio-recorded, transcribed, and analysed using inductive content analysis. RESULTS: Twenty-five individuals participated (17 physicians and 8 home ventilation nurses). Participants viewed themselves as impartial medical advocates in the decision-making process, believing the decision to initiate or cease ventilation belonged to the child's family. While participants held the child's quality of life as the cornerstone of decision-making, quality of life was subjective and family specific. CONCLUSION: These findings provide insight into how clinicians working with children with chronic respiratory insufficiency approach the decision to introduce home-based ventilation. By understanding their role, strategies can be developed to assist them, leading to better outcomes for patients and families. Further research is needed to compare the perspectives of clinicians with the experience of ventilator-assisted children and families in Australia.

Visitor restrictions in hospitals during infectious disease outbreaks: An ethical approach to policy development and requests for exemptions.

In this paper, we explore the ethics of restricting visitation to hospitals during an infectious disease outbreak. We aim to answer three questions: What are the features of an ethically justified hospital visitor restriction policy? Should policies include scope for case-by-case exemptions? How should decisions about exemptions be made? Based on a critical interpretive review of the existing ethical literature on visitor restrictions, we argue that an ethically justified hospital visitor restriction policy has the following features: proportionality, comprehensiveness, harm mitigation, exemptions for specific patient populations, visitation decisions made separately from a patient's treating clinicians, transparency, and consistency in application. We also argue that an ethical policy ought to include scope for case-by-case exemptions for individual patients. We propose a process for ethical decision-making that provides a shared language and structure to decrease the risks and burdens of decision-making when clinicians or managers are considering requests for exemptions.

Handshake or high-five: Greeting children.

The handshake is a common greeting, parting gesture or deal sealer across the globe. Its origins may go back to pre-history, ancestorial primates using similar gestures. The handshake is cultural norm, most commonly shared between adults, which children learn as they grow up. There are many important aspects to the handshake that can promote the clinician-patient relationship, but how clinicians caring for children should use the handshake has not received attention. This paper explores the origins of the handshake and its closely allied gesture, the high-five, and considers how they can work to promote the care of children.

Lessons from Frankenstein 200 years on: brain organoids, chimaeras and other 'monsters'.

Mary Shelley's Frankenstein has captured the public imagination ever since it was first published over 200 years ago. While the narrative reflected 19th-century anxieties about the emerging scientific revolution, it also suggested some clear moral lessons that remain relevant today. In a sense, Frankenstein was a work of bioethics written a century and a half before the discipline came to exist. This paper revisits the lessons of Frankenstein regarding the creation and manipulation of life in the light of recent developments in stem cell and neurobiological research. It argues that these lessons are becoming more relevant than ever.

Suffering and the end of life.

Relief of suffering is an important goal of medicine and aligns with the professional maxim of 'do no harm' and the bioethical principle of non-maleficence. Capturing what individuals experience or third-parties sense in terms of suffering is difficult, made harder in the patient who is too young or not able to tell us. This paper builds on the thoughts and experience of Isaacs and Preisz who open a discussion on suffering at the end of life. The discussion is extended by Tobin who recommends the use of goals of care to try to align clinician and parent expectations of what suffering might mean at the end of life. A further paper by Brancatisano makes a comment that family resource and parental suffering might inappropriately guide parental decision-making at the end of life in cases where suffering is apparent. In my piece, I add my concerns that physicians can write their own narrative about suffering which can compete against the parent's view. Furthermore, suffering can be used as a weapon for physicians to pressure parents towards the medical view.

A narrative review of the experience and decision-making for children on home mechanical ventilation.

Technological advances in mechanical ventilation have made home care possible for children requiring long-term ventilation. However, there are ethical and logistical challenges to transitioning home. The aim of this narrative review is to identify the experiences of the children and their families and the decision-making process to embark on home mechanical ventilation. A systematic review of the literature using Medline and OVID databases was conducted. Children <18 years requiring non-invasive ventilation or tracheostomy with ventilation or continuous positive pressure ventilation were included. The initial search yielded 1351 results, 1017 after duplications were removed and 111 after abstracts were reviewed. After applying inclusion and exclusion criteria to full text analysis, 48 references were analysed. The children and families described home ventilation as facilitating better health and functional status. However, they concurrently described social isolation, stigma, financial stress and loss of independence. The decision-making process to embark on home ventilation needs more research.

A practical and ethical toolkit for last-minute refusal of anesthetic in children.

Children's fear of a procedure, including the anesthetic, is a common issue that operating theatre staff face. This fear is generally mitigated by preesthetic preparation and information sharing. Last-minute refusal of a procedure creates unique difficulties for the anesthetist and proceduralist. Refusal for a procedure raises issues of whether the dissent is binding, and if not, how best to get the child to theatre without creating moral injury. In this case review of a young adolescent who refuses to go to the operating theatre, we explore practical and ethical options to resolve the situation. We discuss respect for persons (including assent and consent), best interests, truth-telling, harm minimization, and restraint. The importance of a postevent debrief is discussed. We also assess the value of a clinical ethics service with team members embedded in clinical teams.

Exercise-induced laryngeal obstruction in children and adolescents: are we listening?

Exertional dyspnoea among children and adolescents is a common presenting complaint to general practitioners. Exertional dyspnoea is most commonly attributed to exercise-induced bronchoconstriction (EIB), but there are several other causes including hyperventilation syndrome, breathlessness associated with normal exercise limitation and exercise-induced laryngeal obstruction (EILO). The symptoms of EILO include stridor, throat tightness and difficulty on inspiration. If these are mistaken for EIB, children will receive asthma therapy. The underlying mechanism of EILO includes closure of the larynx during high-intensity exercise, which causes a reduction in airflow and breathlessness. This phenomenon is often associated with a background of psychological stress. Historically, a diagnosis of EILO has been considered 'rare' though this may be a reflection of under-recognition. Direct visual observation via laryngoscopy is the gold standard for diagnosis of EILO; however, this is rarely available even in specialised centres. Nevertheless, the diagnosis can usually be made by recognising the characteristic clinical pattern. Here we provide recommendations for appropriate investigations for the determination of EILO, together with suggested treatment.

Respiratory management of infants with chronic neonatal lung disease beyond the NICU: A position statement from the Thoracic Society of Australia and New Zealand.

Chronic neonatal lung disease (CNLD) is defined as continued need for any form of respiratory support (supplemental oxygen and/or assisted ventilation) beyond 36 weeks PMA. Low-flow supplemental oxygen facilitates discharge from hospital of infants with CNLD who are hypoxic in air and is widely used despite lack of evidence on the most appropriate minimum mean target oxygen saturations. Furthermore, there are minimal data to guide the home monitoring, titration or weaning of supplemental oxygen in these infants. The purpose of this position statement is to provide a guide for the respiratory management of infants with CNLD, with special emphasis on role and logistics of supplemental oxygen therapy beyond the NICU stay. Reflecting a variety of clinical practices and infant comorbidities (presence of pulmonary hypertension, retinopathy of prematurity and adequacy of growth), it is recommended that the minimum mean target range for SpO2 during overnight oximetry to be 93-95% with less than 5% of total recording time to be below 90% SpO2 . Safety of short-term disconnection from supplemental oxygen should be assessed before discharge, with majority of infants with CNLD not ready for discharge until supplemental oxygen requirement is ≤0.5 L/min. Sleep-time assessment of oxygenation with continuous overnight oximetry is recommended when weaning supplemental oxygen. Palivizumab is considered safe and effective for the reduction of hospital admissions with RSV infection in this group. This statement would be useful for paediatricians, neonatologists, respiratory and sleep physicians and general practitioners managing children with CNLD.

International perspectives on the implementation of reproductive carrier screening.

Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to inform people about their risk of having children with autosomal recessive and X-linked recessive disorders, to allow for informed decision making about reproductive options. The consequence may be a decrease in the birth prevalence of these conditions, which has occurred in several countries for some conditions. Different programs target different groups (high school, premarital, couples before conception, couples attending fertility clinics, and pregnant women) as does the governance structure (public health initiative and user pays). Ancestry-based offers of screening are being replaced by expanded carrier screening panels with multiple genes that is independent of ancestry. This review describes screening in Australia, Cyprus, Israel, Italy, Malaysia, the Netherlands, Saudi Arabia, the United Kingdom, and the United States. It provides an insight into the enormous variability in how reproductive carrier screening is offered across the globe. This largely relates to geographical variation in carrier frequencies of genetic conditions and local health care, financial, cultural, and religious factors.

How to interpret polysomnography.

A 5-year-old child presents to a paediatric clinic with their parents because of concerns about snoring, which is loud, every night and associated with respiratory pauses. This has been present for 6 months. Can clinical evaluation diagnose sleep-disordered breathing in children or are further investigations required? Should further investigations include oximetry or polysomnography? If a polysomnogram is performed, how are the results interpreted? In this paper we describe the indications for polysomnography, outline the parameters measured and decode a clinical polysomnography report.

Utility of Endobronchial Ultrasound in Assessment of Intrathoracic Lesions in Paediatric Patients.

INTRODUCTION: In adults, linear endobronchial ultrasound (EBUS) is the preferred modality to sample intrathoracic adenopathy and radial EBUS is a useful tool to biopsy peripheral pulmonary nodules. Utility in children is less well known. OBJECTIVES: The objective of this study was to review the EBUS experience of two specialist centres to better define the current role of EBUS in paediatric practice. METHODS: A retrospective record review of EBUS procedures undertaken in patients aged 0-17 years at the Royal Children's Hospital (Melbourne, Australia) and Thoraxklinik (Heidelberg, Germany) was performed. Data extracted included patient demographics, clinical presentation, bronchoscope (size and model), EBUS technique used, pathologic results, need for further invasive investigation, and complications. RESULTS: Between 2008 and 2017, ten EBUS procedures were performed (6 linear EBUS and 4 radial EBUS). No complications were reported. Linear EBUS was performed on subjects who were between 4 and 15 years old, with a 100% diagnostic yield. Radial EBUS was non-diagnostic in three cases of non-malignant disease. In one case, it was used successfully for imaging alone. CONCLUSION: Both linear and radial EBUS are safe and feasible in children. Diagnostic yield of linear EBUS was 100%. Radial EBUS did not demonstrate utility, likely reflecting the pathologies of underlying parenchymal masses in paediatric populations.

Medical conditions revealed in fairy tales, folklore and literature.

Our culture has a rich history of fairy tales, folklore and literature. These have all served a purpose, often to entertain, but also to moralise. Authors have often included interesting characters with identifiable medical conditions or described interesting characters that lend their names to conditions we can identify today. This paper looks at the medical conditions found in fairy tales, folklore and literature.

Pulmonary Mycobacterium abscessus complex in children with cystic fibrosis: A practical management guideline.

The treatment of Mycobacterium abscessus complex (MABSC) pulmonary infections is an emerging challenge in patients with cystic fibrosis (CF). Multidrug therapy for prolonged durations is required and carries the significant burden of drug-related toxicity, cost and selective pressure for multiresistant bacteria. International guidelines acknowledge that clinical and in vitro data to support treatment regimens are limited, particularly in children. As part of a collaboration between the infectious diseases and respiratory units at our institution, we have developed a modified treatment guideline that aims to balance the aims of MABSC eradication and slowing disease progression with minimising drug toxicity and resistance. The outcomes of this treatment approach will be monitored and reported. In this manuscript, we discuss the available evidence for treatment choices and present our treatment guideline for paediatric patients with CF and MABSC infection.

Laboratory performance of sweat conductivity for the screening of cystic fibrosis.

BACKGROUND: There are several complementary English-language guidelines for the performance of the sweat chloride test. These guidelines also incorporate information for the collection of conductivity samples. However, recommendations for the measurement and reporting of sweat conductivity are less clear than for sweat chloride. The aim of the study was to develop an understanding of the testing and reporting practices of sweat conductivity in Australasian laboratories. METHODS: A survey specifically directed at conductivity testing was sent to the 12 laboratories registered with the Royal College of Pathologists of Australasia Quality Assurance Programs. RESULTS: Nine (75%) laboratories participated in the survey, seven of whom used Wescor Macroduct® for collecting sweat and the Wescor SWEAT·CHEK™ for conductivity testing, and the remaining two used the Wescor Nanoduct®. There was considerable variation in frequency and staffing for this test. Likewise, criteria about which patients it was inappropriate to test, definitions of adequate collection sweat rate, cutoffs and actions recommended on the basis of the result showed variations between laboratories. CONCLUSIONS: Variations in sweat conductivity testing and reporting reflect many of the same issues that were revealed in sweat chloride test audits and have the potential to lead to uncertainty about the result and the proper action in response to the result. We recommend that sweat testing guidelines should include clearer statements about the use of sweat conductivity.

Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome and Cystic Fibrosis Screen Positive, Inconclusive Diagnosis.

OBJECTIVE: An unintended consequence of cystic fibrosis (CF) newborn screening (NBS) is the identification of infants with a positive NBS test but inconclusive diagnostic testing. These infants are classified as CF transmembrane conductance regulator-related metabolic syndrome (CRMS) in the US and CF screen positive, inconclusive diagnosis (CFSPID) in other countries. Diagnostic and management decisions of these infants are challenges for CF healthcare professionals and stressful situations for families. As CF NBS has become more widespread across the world, increased information about the epidemiology and outcomes of these infants is becoming available. These data were reviewed at the 2015 CF Foundation Diagnosis Consensus Conference, and a harmonized definition of CRMS and CFSPID was developed. STUDY DESIGN: At the consensus conference, participants reviewed published and unpublished studies of CRMS/CFSPID and used a modified Delphi methodology to develop a harmonized approach to the definition of CRMS/CFSPID. RESULTS: Several studies of CRMS/CFSPID from populations around the world have been published in the past year. Although the studies vary in the number of infants studied, study design, and outcome measures, there have been some consistent findings. CRMS/CFSPID occurs relatively frequently, with CF:CRMS that ranges from 3 to 5 cases of CF for every 1 case of CRMS/CFSPID in regions where gene sequencing is not used. The incidence varies by NBS protocol used, and in some regions more cases of CRMS/CFSPID are detected than cases of CF. The majority of individuals with CRMS/CFSPID do not develop CF disease or progress to a diagnosis of CF. However, between 10% and 20% of asymptomatic infants can develop clinical features concerning for CF, such as a respiratory culture positive for Pseudomonas aeruginosa. Most studies have only reported short-term outcomes in the first 1-3 years of life; the long-term outcomes of CRMS/CFSPID remain unknown. The European CF Society definition of CFSPID and the CF Foundation definition of CRMS differ only slightly, and the consensus conference was able to create a unified definition of CRMS/CFSPID. CONCLUSIONS: CRMS/CFSPID is a relatively common outcome of CF NBS, and clinicians need to be prepared to counsel families whose NBS test falls into this classification. The vast majority of infants with CRMS/CFSPID will remain free from disease manifestations early in life. However, a small proportion may develop clinical features concerning for CF or demonstrate progression to a clinical phenotype compatible with a CF diagnosis, and their long-term outcomes are not known. A consistent international definition of CRMS/CFSPID will allow for better data collection for study of outcomes and result in improved patient care.

"They Just Want to Know" - Genetic Health Professionals' Beliefs About Why Parents Want to Know their Child's Carrier Status.

In the context of a child being diagnosed with a genetic condition, reports from both parents and health professionals suggest many genetic health professionals are reluctant to provide carrier testing for unaffected siblings, despite the lack of evidence of harm. We propose that genetic health professionals' understandings of why parents want to have their children tested may contribute to their reluctance to test. We draw on interviews with 17 genetic health professionals, reporting their beliefs about parents' motivations for testing and their intentions to communicate results to their children. Data were analyzed using inductive content analysis. Genetic health professionals reported attributions that contrasted with reasons parents actually report. These disparities fall into two categories: 1) attributing reasons that parents do not themselves report (i.e. for reassurance about their child's health), and 2) not recognizing the reasons that parents actually do report for wanting testing (i.e. to communicate the information to their child). By identifying that genetic health professionals may be misattributing reasons to parents for desiring their child"s carrier status, they may be missing an opportunity to assist parents to make decisions that are in line with their values and the best interests of the family.

Parents' experiences with requesting carrier testing for their unaffected children.

PURPOSE: International guidelines generally recommend delaying genetic carrier testing in children until the child reaches the age of majority or is mature enough to be involved in the decision. Several studies have shown that carrier testing of children does occur in some instances, particularly in siblings of a child affected with a genetic condition. However, little research has explored parents' experiences with the testing process, the impact of knowing a child's carrier status, and whether parents communicate carrier information to their children. METHODS: Semistructured interviews were conducted with 33 parents of children who had one of three genetic conditions (cystic fibrosis, hemophilia, and Duchenne muscular dystrophy). Inductive content analysis was used to analyze the data. RESULTS: Eight distinct pathways to carrier testing were distinguishable. While some parents had requested testing, others had been offered testing and some had received carrier results incidentally following testing to exclude affected status. Some parents were discouraged from testing, which led to frustration. Overall, 67% of the parents had received carrier results for at least one child, and parents were happy to have results, even if their children were carriers. CONCLUSION: Despite recommendations against carrier testing, this study provides evidence of varying practices and highlights a need to review the guidelines.Genet Med 18 12, 1199-1205.