bluuebunny/crossref_metadata_2025 huggingface dataset:
Indications for genetic testing in athletes and its application in daily practice
Authors: Mazzanti Andrea , Underwood Katherine , Priori Silvia G.
Published: April 2019

Genetic information is fundamental for the management of patients with primary arrhythmia syndromes (e.g. long QT syndrome or catecholaminergic polymorphic ventricular tachycardia) and cardiomyopathies (e.g. arrhythmogenic right ventricular cardiomyopathy or hypertrophic cardiomyopathy) which increase the risk of sudden cardiac death. Importantly, molecular testing can play a pivotal role in establishing a clinical diagnosis of an inherited cardiovascular disease, particularly when the phenotype in unclear and overlaps with the normal adaptations induced in the heart by chronic exercise. However, the decision to undergo genetic testing needs to be justified on a clinical basis and handled by professionals who are capable of framing the results in the correct perspective. In this chapter we will answer the following questions. When should genetic testing be performed in athletes? Which genetic tests should be requested for athletes? What impact should a positive genetic result have on sports eligibility?
Arrhythmogenic cardiomyopathy and sudden death in young athletes: causes, pathophysiology, and clinical features
Authors: Thiene Gaetano , Pilichou Kalliopi , Rizzo Stefania , Basso Cristina
Published: April 2019

Arrhythmogenic cardiomyopathy (AC) is a rare non-ischaemic cardiomyopathy with a prevalence in of 1:200 to 1:5000. In the 1980s, the disorder was demonstrated to be a major cause of sudden death (SD) in the young and athletes, thus emphasizing the need for early diagnosis for disqualification from sport activity. Pre-participation screening using ECG is effective in detecting ECG abnormalities which raise suspicion of the disease, requiring additional second- and third-level investigations to obtain a definite diagnosis. Cardiac magnetic resonance (CMR), which can detect both morpho-functional and tissue abnormalities, is probably the best tool for assessing doubtful cases. The rarer left ventricular variant (‘non-ischaemic left ventricular scar’) is not detected by ECG at first-level pre-participation screening, which presents a major challenge for SD prevention. Risk stratification consensus criteria recommend use of an implantable cardioverter defibrillator (ICD). Use of pre-participation screening and automated external defibrillators (AEDs), working together should help to prevent SD. Since at least 60% of cases are heredofamilial and usually present desmosome gene mutations, genetic investigation should be carried out in the proband and cascade genetic screening should be offered to first-degree family members for primary prevention. Basic research into the AC pathogenic mechanisms is in progress, and there is clinical and experimental evidence that exercise with right ventricular overload may favour onset and progression of AC, at least in genotype-positive patients. Reduction of sports activity will not only prevent abrupt onset of ventricular arrhythmias with the risk of SD, but may also delay phenotype expression.
Differentiating athlete’s heart from left ventricular non-compaction cardiomyopathy
Authors: D’Silva Andrew , Sharma Sanjay
Published: April 2019

Left ventricular non-compaction cardiomyopathy is a recently recognized heart muscle disorder, which remains incompletely understood. It was originally considered to be a congenital disorder resulting from disruption of the normal developmental process of myocardial compaction, but the evidence supporting this notion is lacking. Some experts have suggested that the entity is not a distinct cardiomyopathy but a morphological trait shared by many phenotypically distinct cardiomyopathies. Others have shown that left ventricular non-compaction may be acquired by cardiac remodelling. Gold standard diagnostic criteria are currently lacking and proposed imaging-based criteria have created an epidemic of over-diagnosis in low risk populations. Athletes suffer significant false-positive rates, and current evidence suggests that this entity may be related to cardiovascular adaptation to increased preload. This chapter describes the contemporary knowledge and current controversies regarding left ventricular non-compaction cardiomyopathy and how this can be differentiated from athlete’s heart.
The athlete with congenital heart disease
Authors: Pieles Guido E. , Stuart Graham
Published: April 2019

An increasing number of patients with congenital heart disease (CHD) are participating in regular sport at levels ranging from gentle recreational activities to elite professional sport. In general, children and adults with CHD should be encouraged to engage in regular physical activity, but long-term complications, such as heart failure, arrhythmias, and the need for re-operation, can occur. The sports cardiologist must be alert to the presence of underlying CHD, as physiology, haemodynamics, and functional status can change with time even after correction or palliation and intervention may be necessary before the onset of major symptoms. Although consensus management guidelines for adults with CHD are available, there is very little lesion-specific advice on sports and exercise. The wide range of diagnoses and pathophysiology make regular and individualized assessment essential. Assessment tools include ECG, echocardiogram, and CMR, but regular comprehensive functional exercise assessment is recommended. Care of the athlete with CHD should be coordinated in close collaboration with congenital heart specialists.
Channelopathy in athletes
Authors: Panhuyzen-Goedkoop Nicole M. , Wilde Arthur A.M.
Published: April 2019

Channelopathies are primary inherited electrical disorders (prevalence 2–4%). Long QT syndrome (LQTS), short QT syndrome (SQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and Brugada syndrome (BrS) predispose to life-threatening ventricular arrhythmia (VT/VF). Several triggers can provoke VT/VF, such as exercise (LQTS,CPVT), vagotonia (BrS), hyperthermia (LQTS and BrS), immersion in cold water (LQTS), or electrolyte/volume depletion.

It is a challenge for the screening physician to recognize the signature ECG changes of channelopathy at rest (LQTS, SQTS, BrS) or during exercise (CPVT) to identify the disease and assess the risk of VT/VF. Eligibility decision-making should involve cardiological expertise in channelopathy and determination of phenotypic and genotypic expression, and is not solely based on the assumption that channelopathies induce VT/VF.

This chapter discusses the clinical presentation, management, and risk assessment in athletes of the four major channelopathies (LQTS, SQTS, CPVT, and BrS).
Ventricular tachyarrhythmias
Authors: Guasch Eduard , Mont Lluís
Published: April 2019

The identification of ventricular arrhythmias in athletes should always be carefully considered because of the increased risk of SCD. The main factor determining this risk is the presence of an underlying structural or primary arrhythmic heart disease. Consequently, the identification of ventricular arrhythmias in an athlete should prompt exploratory testing, most commonly involving 24-hour Holter ECG, echocardiography, and an exercise test. Other tests should be considered on an individual basis. In general, the more frequent and complex the ventricular arrhythmias, the higher are the risks of a heart disease, and a more thorough examination is required. While most arrhythmias in athletes without heart disease are idiopathic ventricular arrhythmias, considerable attention has been paid recently to an exercise-induced substrate for ventricular arrhythmias, similar to classic forms of arrhythmogenic ventricular cardiomyopathy. Overall, the identification of a cardiac condition will determine the prognosis, therapeutic approach, and eligibility for competitive sport.
Supraventricular tachyarrhythmias
Authors: Wilhelm Matthias
Published: April 2019

Supraventricular tachyarrhythmias (SVTs) include atrial tachycardia (AT), atrioventricular nodal re-entrant tachycardia (AVNRT), atrioventricular re-entrant tachycardia (AVRT), atrial flutter (AFL), and atrial fibrillation (AF).

The prevalence of SVT does not differ between athletes and the general population. An exception is AF, with a two- to eightfold higher prevalence in athletes, probably due to exercise-induced atrial remodelling. Symptoms of SVTs include palpitations, dizziness, weakness, and rarely syncope, and may impair athletic performance. Except for AF in the presence of an accessory pathway, SVTs are rarely life-threatening. For treatment of AT, AVNRT, AVRT, and AFL catheter ablation is generally preferred over lifelong anti-arrhythmic drug (AAD) therapy because of high rates of resolution. Reduction of training volume and AAD therapy should be attempted in athletes with AF. However, catheter ablation of AF may be the first-line therapy in athletes with severe symptoms. Most athletes with SVT can continue leisure-time activities and competitive sports.
Pre-excitation and conduction abnormalities
Authors: Delise Pietro
Published: April 2019

Ventricular pre-excitation (Wolff–Parkinson–White pattern) and conduction abnormalities may be discovered during cardiovascular pre-participation screening in athletes. Their prevalence varies between 0.1% (Wolff–Parkinson–White, left bundle branch block) and 1% (right bundle branch block).

Patients with pre-excitation and paroxysmal palpitations need to be treated before considering their eligibility to participate in sport. An electrophysiological study is required in asymptomatic athletes with the Wolff–Parkinson–White pattern. Subjects are considered ineligible for participation in sport if the RR intervals between pre-excited complexes during induced atrial fibrillation are <250ms.

Subjects with conduction abnormalities may or may not be affected by heart disease. In the absence of heart disease, athletes with first- or second-degree atrioventricular (AV) block which normalizes during effort are eligible to participate in sport. According to current Italian and US guidelines, athletes with right bundle branch block, left anterior hemiblock, left posterior hemiblock, and left bundle branch block can participate in all sports in the absence of heart disease (including genetic Lenègre disease) and no episodes of AV block.
Less frequent causes of SCD (commotio cordis): non-cardiac causes (drug abuse, hyperpyrexia, rhabdomyolysis, sickle cell anaemia)—Part 1
Authors: Solberg Erik Ekker , Adami Paolo Emilio
Published: April 2019

It is important to be aware of the clinical features of less frequent causes of SCD in Europe (e.g. commotio cordis and aortic rupture) and non-cardiac causes (e.g. drug abuse, hyperpyrexia, rhabdomyolysis, sickle cell trait, asthma, and extreme environmental conditions). Lay people and health personnel may not understand the mechanisms leading to sudden cardiac arrest and therefore not act properly. This chapter describes these conditions and their relation to sudden cardiac arrest, and provides advice for prevention and action in actual cases.
Pre-participation screening of young competitive athletes
Authors: Corrado Domenico , Zorzi Alessandro
Published: April 2019

Sudden cardiac arrest is most often the first clinical manifestation of an underlying cardiovascular disease and usually occurs in previously asymptomatic athletes. The risk–benefit ratio of physical exercise differs between young competitive athletes and middle-aged/senior individuals engaged in leisure-time sports activity. Competitive sports are associated with an increased risk of sudden cardiovascular death in susceptible adolescents and young adults with underlying cardiovascular disorders. In middle-aged/older individuals, physical activity can be regarded as a ‘two-edged sword’: vigorous exertion increases the incidence of acute coronary events in those who do not exercise regularly, whereas habitual physical activity reduces the overall risk of myocardial infarction and sudden cardiac death. Although cardiovascular pre-participation evaluation offers the potential to identify athletes with life-threatening cardiovascular abnormalities before the onset of symptoms and may reduce their risk of sudden death, there is a significant debate among cardiologists about its efficacy, the impact of false-positive results, and the cost-effectiveness of routine screening. This chapter presents an appraisal of the available data and criticisms concerning screening programmes aimed at preventing sudden death of either young competitive athletes or older individuals engaged in leisure-time sports activity.
Criteria and considerations relative to safe participation in sport for athletes with cardiac abnormalities
Authors: Pelliccia Antonio , Heidbüchel Hein , Corrado Domenico , Sharma Sanjay , Börjesson Mats
Published: April 2019

This chapter describes the criteria for advising safe participation in competitive sport in individuals with underlying (or even silent) cardiovascular (CV) diseases. The rationale for advising sport participation in patients with CV diseases is based on the broad clinical perception, substantiated by scientific evidence, that such individuals are exposed to an increased risk of sudden cardiac death/cardiac arrest (SCD/CA), or progression of the underlying disease, in association with intensive exercise training and sport participation. However, modification of the type/intensity of sport, or abstinence from competition in selected cases, may reduce the risk.

Competitive athletes, especially professionals, with clinically silent CV abnormalities are usually driven by the will to accept possible future risks, but achieve the immediate benefits associated with a lucrative athletic career including (but not limited to) the economic, societal, and visibility correlates. In this context, the role of the physician is to identify the pathological cardiac condition and approriately advise the athlete regarding the benefits and risk associated with participation in sport. This chapter suggests the approach that the physician can adopt, based on the best scientific knowledge of the CV disease and keeping in mind the primary aim of safeguarding the athlete’s health.

The present recommendations are the framework for a protocol of evaluation and management of athletes with CV disease, based on the available scientific evidence and expert opinion. Currently, in the absence of robust evidence, these recommendations cannot be considered as legally binding. Therefore, individual physicians may also practise outside the remit of these recommendations, based on their scientific and professional experience in sports cardiology.

Implementation of these recommendations may achieve a relevant medical approach to safeguarding the health of athletes, and provide a uniform method of managing elite and professional athletes as they compete globally.
Cardiac safety at sports events: the medical action plan
Authors: Serratosa Luis , Kramer Efraim , Börjesson Mats
Published: April 2019

The cardiac-specific medical services plan, in and around a sports stadium or arena, should be carefully undertaken and individualized, in order to ensure safe, effective, and coordinated management of any sudden cardiac arrest (SCA).

This is ensured practically by tailoring the designated number and skills of on-duty health-care personnel and by having adequate and appropriate medical equipment, effective communication systems, and the emergency medical service transportation logistics required to initiate cardiopulmonary resuscitation (CPR) and defibrillation within the first 3–5 minutes after SCA, regardless of the size or type of sport environment. The planning should be written down in a medical action plan (MAP) which should be communicated to all relevant and appropriate officials, health-care personnel, and, where relevant, participants and spectators. Relevant contact information regarding activation of the necessary emergency medical services, listing the sport environment health-care personnel, and continuous education and skills training are vital parts of the MAP.
Cardiac safety at fitness centres
Authors: Solberg Erik Ekker , Johansson Jakob , Biffi Alessandro
Published: April 2019

Fitness centres are a major location for exercise. There is a lack of data on adverse cardiac events and the structure of cardiovascular safety at such centres. No European recommendation is available. However, sudden cardiac arrest at such centres has a documented higher survival rate. Potentials for prevention of cardiac events thus exist, although the standard of emergency equipment on site, regular training in basic life support for staff members, and emergency plans could be improved.
World Anti-Doping Agency (WADA) and International Olympic Committee (IOC) list of prohibited substances and methods and their cardiovascular effects
Authors: Niebauer Josef , Sundberg Carl Johan
Published: April 2019

The abuse of doping substances is prevalent in sports and in society at large. Doping substances are also present in a substantial fraction of nutritional supplements. They can cause severe side effects. This chapter is focused on cardiovascular side effects. Androgenic anabolic steroids can induce left ventricular hypertrophy, heart fibrosis, and systolic and diastolic dysfunction, and has been associated with dyslipidaemia, endothelial dysfunction, and coronary artery disease. Beta-2 agonists can induce chronotropic and inotropic effects, QT prolongation, palpitations, arrhythmias and sudden cardiac death. Erythropoietin can induce hypertension and embolism. Use of banned substances and methods in sports, i.e. doping, is prohibited, unethical, and dangerous. Research efforts in sports sciences and sports medicine are needed to prevent and treat doping abuse and to help athletes be successful without the need for doping.
Paediatric Nephrology
Authors: Rees Lesley , Bockenhauer Detlef , Webb Nicholas J.A. , Punaro Marilynn G.
Published: April 2019

This is a comprehensive, clinically orientated guide to the management of children with all forms of renal disease. Its purpose is to be a portable but complete reference for the day-to-day, bedside, and outpatient management of all conditions, either by the general paediatrician in their own hospital, by specialist paediatric nephrologists, or in shared care between general hospitals and specialized centres. Using bullet points and text boxes, it is easy to use, even in an emergency. The focus is principally on investigation and management, but it also includes some pathophysiology in order to enable better understanding of conditions such as fluid and electrolyte disorders in particular. Where possible, evidence-based recommendations are made, though in the many instances where high-quality evidence is lacking, recommendations are made based on the authors’ personal experience and current best practice. The chapters have been written by four authors who are experienced consultants at three large children’s hospitals in the United Kingdom and the United States.
Patient assessment
Authors: Rees Lesley , Webb Nicholas J.A , Bockenhauer Detlef , Punaro Marilynn G.
Published: April 2019

A full history and examination are key to disease identification in all patients, but there are some important points that are specific to renal disease. This, along with findings in the urine and renal ultrasound, can go a long way to making a diagnosis. In certain circumstances, other renal imaging, renal histology, or genetics are also needed.
The neonate
Authors: Rees Lesley , Webb Nicholas J.A , Bockenhauer Detlef , Punaro Marilynn G.
Published: April 2019

Immaturity of the neonatal kidney predisposes to renal injury. Causes, treatment, and outcome are different to older children.
Congenital abnormalities of the kidneys and urinary tract
Authors: Rees Lesley , Webb Nicholas J.A , Bockenhauer Detlef , Punaro Marilynn G.
Published: April 2019

Congenital abnormalities of the kidneys and urinary tract (CAKUT) are the commonest cause of renal problems in children, ranging from asymptomatic or incidental findings to a cause of urinary tract infection and obstruction, renal damage, and end-stage kidney disease. The investigation and management of CAKUT depend on the potential for causing renal injury.
Renal calculi and nephrocalcinosis
Authors: Rees Lesley , Webb Nicholas J.A , Bockenhauer Detlef , Punaro Marilynn G.
Published: April 2019

Urolithiasis and nephrocalcinosis can be associated with substantial morbidity: stones can lead to obstruction and/or infection, which can lead to loss of kidney function, if not treated promptly. Nephrocalcinosis is often associated with a urinary concentrating defect, predisposing to dehydration. This chapter discusses the underlying causes of renal calculi and nephrocalcinosis, their diagnosis, and the acute and chronic management.
Infections and the kidney
Authors: Rees Lesley , Webb Nicholas J.A , Bockenhauer Detlef , Punaro Marilynn G.
Published: April 2019

Many infections can affect the kidney, either by direct invasion or by immune mechanisms. This chapter describes the commoner infections.
Renal cystic diseases and ciliopathies
Authors: Rees Lesley , Webb Nicholas J.A , Bockenhauer Detlef , Punaro Marilynn G.
Published: April 2019

Inherited renal cystic diseases comprise a spectrum of disorders that are typically characterized by dysfunction of the so-called cilia. These hair-like cellular appendages are involved in numerous cellular signalling processes. During development, cilia are important for the development of the left–right axis and for the establishment of cell polarity. Consequently, depending on the specific nature of the underlying ciliary defect, renal cystic diseases can be associated with a large spectrum of other organ manifestations, including congenital heart disease, retinopathy, polydactyly, and hepatic abnormalities, such as ductal plate malformation. Based on clustering of such symptoms, specific clinical syndromes, such as nephronophthisis, Bardet–Biedl syndrome, Joubert syndrome, and the various forms of polycystic kidney diseases, have been assigned. Subsequent genetic investigations have shown that these clinical distinctions are not necessarily consistent with the underlying genetic alterations, so that, for example, genes initially associated with Joubert syndrome can phenocopy autosomal recessive polycystic kidney disease. Thus, identification of the genetic cause can inform the clinical management to assess for potentially involved organ manifestations.
Acute kidney injury
Authors: Rees Lesley , Webb Nicholas J.A , Bockenhauer Detlef , Punaro Marilynn G.
Published: April 2019

The causes of acute kidney injury, the assessment of the patient, and management of the different causes are discussed in this chapter.
Chronic kidney disease
Authors: Rees Lesley , Webb Nicholas J.A , Bockenhauer Detlef , Punaro Marilynn G.
Published: April 2019

This chapter discusses all aspects of chronic kidney disease in childhood.
A short introductory note about neuroprogression in psychiatry
Authors: Streb Luis Guilherme , Berk Michael , Kapczinski Flávio
Published: April 2019

This chapter shows how the field of neuroprogression and staging has evident conceptual and historical connections with past clinical and research efforts made in Europe during the first half of the nineteenth century. ‘Psychiatrie’ was a new branch of medicine trying to find and define disorders within the psychic, symptomatic, and behavioural realms. Disorders, and boundaries between them, were still largely unknown, as well as the course of clinical presentation. As early as 1850, theory and research pointed to some unifying perspectives with characteristic ‘evolving deterioration in transformation’. Some classical descriptions of ‘stages’ and ‘phases’ of disease bear clear resemblance to current staging models. ‘Phrenalgie’ and ‘Seelenschmerz’, for example, correspond essentially to the current definitions of ‘initial vulnerability’ or ‘increased risk’. Relating severity of presentation and intensity of recurrence to bad prognosis became clear and opened empirical ways to understand pathophysiology, reframed nowadays under the ideas of neuroprogression and staging.
Neuroprogression in post-traumatic stress disorder
Authors: Cassidy Ryan M. , Passos Ives Cavalcante , Kauer-Sant’Anna Márcia
Published: April 2019

Post-traumatic stress disorder (PTSD) has a lifetime prevalence of 10–12% in women and 5–6% in men. Patients with PTSD are at greater risk for obesity, type 2 diabetes mellitus, atherosclerosis, and myocardial infarction. In addition, a subset of these patients develops cognitive impairments unattributable to age or disease comorbidity alone, with hippocampal and prefrontal cortex atrophy. This chapter aims to review the evidence for neuroprogression in PTSD. This concept has been proposed as the pathological rewiring of the brain that takes place in parallel with the clinical and neurocognitive deterioration in the course of some psychiatric disorders. We will also review the biological pathways underlying neuroprogression in PTSD, including changes in inflammatory cytokines, corticosteroids, neurotrophins, and oxidative stress markers.
Transition to parenthood programmes
Authors: Barlow Jane
Published: April 2019

For first-time parents, the ‘transition to parenthood’ is a significant period, not only in terms of changes for the parents and the related stress that such changes may involve, but also in terms of the needs of the unborn/newborn baby. This reflects the fact that the perinatal period is now recognized to be a ‘sensitive’ developmental period in terms of the baby’s neurodevelopment and thereby a significant window of opportunity to equalize the life chances of all children. This chapter examines some of the key changes that can occur during the ‘transition to parenthood’ and the potential impact in terms of long-term well-being of the infant and child. Innovative and evidence-based methods of working to support the couple in the transition to parenthood are described, and the effectiveness of such programmes reviewed in terms of both parental and infant well-being.
Promoting physical activity
Authors: Chalkley Anna , Sherar Lauren
Published: April 2019

Physical activity is beneficial to children’s health and well-being. Evidence suggests that physical activity declines with age from childhood through adolescence and into adulthood, with boys being more active than girls at all ages. Physical activity participation in childhood is affected by the social support and role modelling provided by family, peers, friends, and teachers. Marginalized groups are disadvantaged in terms of access to opportunities to be physically active. From a population perspective, the greatest gains in public health will be achieved by helping those who are most inactive to become moderately active. Physical activity promotion efforts for children have predominantly focused on school-based programmes, but multisectoral approaches are needed with transformative and enlightened public policy regarding many facets of children’s lives such as school curricula, active travel, safe play areas, and enhanced sports opportunities for all.
Prevention of sudden infant death syndrome (SIDS)
Authors: Blair Peter S. , Pease Anna
Published: April 2019

In the 1980s, sudden infant death syndrome (also known as SIDS or cot death) was one of the most common post-neonatal causes of death in the UK. The dramatic 80% fall in these deaths over the last three decades is a testament to evidence-based research using the observational case–control study and even more impressive given the difficulties in funding studies without a randomized controlled trial design. This chapter will describe the initial breakthrough in the early 1990s, the characteristic profile of SIDS, the associated factors identified, the potential causal mechanisms, and the current risk reduction messages. Most of the risk reduction messages are non-controversial and have been readily accepted by health professionals and parents alike. The divergence of opinion regarding how we give preventative advice surrounding infant bed sharing and the strategies employed is addressed in more detail.
Identification of visual impairments
Authors: Solebo Ameenat Lola
Published: April 2019

The development of optimal visual function is important for the future quality of life. Early recognition of morphological abnormalities, such as cataracts, allow for early intervention and a reduction in long-term impairment. There is a period of sensitivity, during which it is important that a clear image is presented to the retina. If treatment is not undertaken in a timely fashion, it can lead to permanent amblyopia. Apart from the newborn and 6–8-week examinations, the only recommended routine examination of the eyes should take place at 4–5 years of age. This should only be undertaken by properly trained individuals with appropriate equipment.
Safeguarding
Authors: Kemp Alison M.
Published: April 2019

In order for children to develop, achieve their potential, and be healthy, they must be safe. Child safeguarding is entrenched in the policy, legislation, and statutory guidance of each UK country. All NHS organizations are accountable for the commissioning and provision of services designed to safeguard and promote the welfare of children. Where possible, child safeguarding is informed by scientific evidence and good practice incorporates the lessons from statutory reviews and child abuse inquiries. This chapter describes the epidemiology of maltreatment, summarizes the legal framework, and addresses the roles and responsibilities of healthcare practitioners in safeguarding children, with a focus on child protection and the prevention of child maltreatment.
Looked after and adopted children
Authors: Simkiss Douglas
Published: April 2019

Looked after children are a vulnerable group with significant health promotion needs. They are at risk of attachment difficulties and unidentified physical and mental health needs. They often have developmental and educational concerns. This chapter introduces the legal and human rights framework and describes what looked after children tell us is important. It outlines the evidence for looked after children having health promotion, attachment, mental, and physical health needs and concludes with some recommendations on the most effective interventions.
Health and early years services
Authors: Soar Susan , Malone Mary
Published: April 2019

An increasing body of evidence around the importance of the first 5 years of life has led to rapid development in recent years in services for children of this age, with a policy emphasis on joint working by health visitors and early years practitioners. This coincided with a large expansion in the number of 2-year-old children accessing free early education across the maintained, private, voluntary, and independent sectors. An integrated health and early education review was introduced to review children’s progress at age 2–2½ years, combining the child health programme review at that key contact point and the statutory early years progress check at age 2 years. Carrying out a joint review has placed new demands on the skillsets of both health and early years practitioners, but implementation and follow-up research studies have highlighted some of the potential benefits of joint working for children and families.
Delivering and managing an effective child health programme across the UK
Authors: Blair Mitch
Published: April 2019

This chapter describes the evidence base supporting effective implementation of the child health programme at national and local levels. It reviews the contribution of implementation and improvement science. Training accreditation and the use of learning sets and data feedback loops are described. A key organizational mechanism to ensure local quality assurance and accountability is the formation of a local child health programme steering group. The structure and functions of such are described.
Strategies through the lifecourse to improve maternal, newborn, child, and adolescent health
Authors: Lawn Joy , Sadoo Samantha
Published: April 2019

Since the formation of WHO in the 1940s, global and national programmes have used ‘maternal and child health’ (MCH) as the foundation. However, over subsequent decades specific aspects have been neglected, notably newborns, stillbirths, and adolescents. Adopting a lifecycle approach brings attention to these target populations, with a shift from MCH to RMNCH+A (reproductive, maternal, newborn, child health, and adolescents). Two thirds of maternal, newborn, and child deaths could be prevented with essential, integrated packages of care. These interventions should be connected through time (across the life course) and place (across different levels of care from communities to facilities, and different types of care including preventive, curative, and palliative care). This enhances cost-effectiveness, uptake of services and health promotion, and is a concept known as the ‘continuum of care’.
Social determinants of health
Authors: Taylor Sebastian , O’Hare Bernadette
Published: April 2019

This chapter reviews differences with respect to health outcomes within and between countries, and the role of the ‘social determinants of health’—family, household, community, and societal conditions—in shaping these outcomes. The pathways from before birth, through the early childhood years, to adolescence and adult health are explored, in particular looking at relationships between health and wealth, as manifested through social, economic, and political factors. National wealth is associated with better child health where adequate resources are channelled into public and social goods, such as clean water and sanitation, education, basic health care, social protection. National, and increasingly global, influences on a country’s ability to raise domestic revenue and finance public services are considered, including aid, trade, and the international and multilateral systems. In a rapidly globalising world, more effort is required to elucidate the channels between global, national and local actors in the generation and equitable distribution of resources.
The environment and health
Authors: Watts Nicholas
Published: April 2019

Modifiable environmental factors are at the centre of over 23% of global deaths every year. The impact on human health is projected to worsen substantially in the coming years, with the health of women and children, and those in low and middle-income countries, disproportionately undermined by many of these environmental determinants. Ninety-nine per cent of all climate change related deaths occur in low and middle-income countries, and 80% of these occur in children. This chapter provides an overview of the interactions between environment and health, exploring the implications of degrading the quality of the air, water, food, and shelter that human wellbeing depends on. As we firmly enter the Anthropocene—a geological era defined by homo sapiens’ new-found ability to alter the planet’s ecosystems—this chapter will also consider the impacts of climate change on women’s and children’s health. Climate change, resulting in, among other things, rising sea levels and changing patterns of extreme weather events, has important social and demographic dimensions, results in direct and indirect health impacts, and exacerbates health inequalities. Tackling the effects that the environment and climate change have on human health will require more joined-up, cross-sectoral policymaking, for example considering the broader environmental and social consequences of agriculture or transport policies to maximise health benefits and minimise adverse effects.
Maternal nutrition
Authors: Devakumar Delan , Rondó Patricia
Published: April 2019

Optimising maternal nutrition can improve the health of the mother and her child, both in the short term and decades later. Pregnancy places greater demands on the woman in terms of energy requirements and micronutrients and it can result in deficiency-related disease. For the foetus, impaired antenatal nutrition can affect development and growth, increasing the risk of premature birth and birth defects. Lasting effects on development are mediated by epigenetic and hormonal changes. In low-resource settings, women’s diets are likely to be deficient in both quantity and quality. Improving the overall maternal diet (quantity, diversity, and availability) is paramount, but the ways to do this are still to be elucidated. For many, especially those in conflict-afflicted regions, improving food security (i.e. access to food) and dietary diversity is most important. Fortification or supplementation may be useful in some settings and ideally should start before conception.
Maternal mental health
Authors: Stewart Robert , Gleadow Ware Selena
Published: April 2019

This chapter describes the high burden of mental health problems affecting women in the perinatal period, their impact on both the mother and child, and approaches to prevention and management, with a particular focus on low and middle-income countries. It outlines the main clinical conditions, including postpartum psychosis and perinatal depression. It summarises key biological and psychosocial aetiological factors, including the link with gender-based inequality. It explains that suicide is a leading cause of indirect maternal death and presents the evidence that perinatal mental health problems can impact on foetal and infant growth and development. It argues the importance of taking a broad bio-psycho-social approach to prevention and treatment, and highlights evidence-based psychosocial interventions that can be delivered by community health workers in low-resource settings.
Strategies to improve maternal and reproductive health
Authors: Malata Address , Hall Jennifer , Kamanga Martha
Published: April 2019

Many single interventions are available to enhance access to and quality of maternal health services but none alone can significantly reduce the rate of maternal mortality in a population. Factors such as rapid urbanisation, political unrest, changes in fertility rates, or growing numbers of institutional births, change the scenario of maternal risk and call for reappraisal of a country’s maternal health strategy and programme priorities. Strategies to improve maternal health, such as the Global Strategy for Women’s and Children’s Health, act as a roadmap to ensure that every woman and her newborn survive. It is vital to consider both the whole reproductive, maternal, neonatal, child, and adolescent health continuum of care, and all levels of healthcare, from community to tertiary settings to improve maternal health. Furthermore, women must be empowered to take decisions about their own health and access to quality healthcare services must be improved.
Intrapartum-related events affecting the newborn
Authors: Aftab Saima , Schaeffer Lauren , Folger Lian , Lee Anne CC
Published: April 2019

This chapter addresses the causes, burden, and interventions for intrapartum-related events, or ‘birth asphyxia’. Intrapartum-related neonatal deaths are among the leading causes of under-five child deaths, and account for 26% of all newborn deaths. An estimated one in ten babies will need some help to start breathing at birth. Approximately 98% of intrapartum deaths occur in low- and middle-income countries, as high rates of home births and unattended deliveries remain challenges. High-risk pregnancies should be monitored closely and deliver in facilities with capacity for obstetric and neonatal management. Here we present the evidence for interventions for primary and secondary prevention (including obstetric care, neonatal resuscitation), and tertiary prevention for infants with acute complications.
Congenital disorders
Authors: Moorthie Sowmiya
Published: April 2019

Congenital disorders encompass a wide range of conditions (e.g. genetic disorders, foetal disease, and developmental disorders) that occur before birth and are an important contributor to mortality and morbidity worldwide. Congenital disorders can be identified at different life stages and effective health services take a holistic approach to their care and prevention. This involves both population health and specialist services across the life course. Systematic collection of data on the types, prevalence, severity, and outcomes of congenital disorders, along with analysis and interpretation of data helps to inform appropriate planning of care and preventative services and activities. Important concepts in relation to congenital disorders, prevention activities, and key challenges to their effective delivery are described in this chapter.
Low birthweight and poor foetal growth
Authors: Cormick Gabriela , Minckas Nicole , Belizán José
Published: April 2019

Low birthweight (LBW) infants constitute a major public health concern in developed and developing countries. LBW infants includes those that were born early (preterm births), those that were born with intrauterine growth restricted (IUGR), or a combination of both. IUGR as a result of chronic malnutrition is more prevalent in developing countries and usually shows more long-term consequences. IUGR infants as a result of acute foetal malnutrition predominate in developed countries and usually have more complications immediately after birth but lower long-term consequences. The WHO 2025 global target is to achieve a 30% reduction in LBW infants. Research should focus on: testing evidence-based interventions starting before pregnancy to improve women’s nutrition in order to stop the vicious circle of malnutrition; treating pregnancy associated conditions such as pre-eclampsia; providing adequate perinatal care and social support; and Identifying risk factors of spontaneous preterm birth, as most causes are unknown.
Strategies to improve newborn health and prevent stillbirths
Authors: Sadoo Samantha , Blencowe Hannah , Tann Cally , Lawn Joy
Published: April 2019

This chapter provides an overview of key priorities and strategies required to improve newborn mortality and morbidity, and reduce stillbirths, in the face of slow progress globally. Whilst it is important to deliver interventions across the lifecycle, the packages of care with the highest impact are care around the time of birth, and the care of small and sick newborns. In recent years, the importance of facility-based care for newborns has been increasingly recognised, with a particular need to improve skilled delivery and the quality of care. However, care at the community level is also important and these should be well linked. Programmatic coverage needs to be better measured; this requires every birth and death to be counted, and robust health information systems to allow tracking of interventions.
Introduction to child health
Authors: Magnus Dan , Taylor Sebastian , Williams Bhanu
Published: April 2019

Over the last twenty years there have been significant improvements in global child health and mortality. These advances have been due to improvements in diseases like diarrhoea, pneumonia, malaria, and measles but are also attributable to a broader global health agenda and increased global aid and expenditure on health, with reductions in poverty and enhanced community-oriented and primary healthcare services.

This chapter provides an overview of global child health and looks at indicators of child health, the causes and distribution of child deaths and morbidity and disability, as well as the importance of the social determinants of health and future priorities.

Addressing current and future threats to child health will require national and international level programme approaches to dealing with key threats such as prematurity, pneumonia, and injuries, as well as health system strengthening, strategies for improving the social determinants of health and investments in supporting research and data systems.
Children in difficult circumstances
Authors: Hesketh Therese , Xudong Zhou
Published: April 2019

There is no agreed definition for children in difficult circumstances. Generally these are children who live outside the norms of mainstream society, and lack the care and protection of adults. The major causes are poverty and disruption of family support systems. The types of children who are classified as living in difficult circumstances include: working children, especially those involved in hazardous or dangerous conditions, children living on the street, children affected by conflict, such as refugees and child soldiers, children who are sexually abused or exploited (including within marriage), orphans, child carers, and children in prison. Accurate estimates for the numbers of children affected globally are impossible to obtain, but around 120 million children alone are thought to be in some form of employment, with the highest prevalence in sub-Saharan Africa. Children living in difficult circumstances suffer immediate and long-term risks to their health and educational attainment, as well as their lifelong prospects.
Advocacy to improve health
Authors: Waterston Tony , Devakumar Delan
Published: April 2019

Advocacy is ‘speaking out on behalf of a particular issue, idea, or person’, acting as a catalyst for change. To achieve the targets described in this book requires advocates and champions. It is therefore an essential component of the work of all health professionals to ensure that services work better for the population and for patients. Effective advocacy requires diplomacy, persistence, an understanding of how systems work, and an ability to work with disciplines outside medicine. The targets of advocacy have traditionally been healthcare focused, but considering the wider social determinants of health is essential. An understanding of social and political science is essential when thinking of the best ways to advocate for and improve a situation. In this chapter, we summarise a toolkit for how to advocate to improve health, and provide two real-life case studies on the commercialisation of infant feeding and child abuse in Mumbai.
What is advocacy?
Authors: Grisold Wolfgang , Struhal Walter , Grisold Thomas
Published: April 2019

Neurology is concerned with diseases of the brain, spinal cord, and neuromuscular system. Neurological diseases can be acute or chronic, and residual or progressive disease often leaves patients with handicaps and disability. Besides many frequent neurological diseases as stroke, epilepsy, movement disorders and others, neurology also includes rare and orphan diseases. In addition to science, treatment, and care, patients and carers often need support at various levels and for distinct problems ranging from individual to global issues, which will be defined as the micro-, meso-, and macro levels. Advocacy, originally defined as ‘giving a voice’ to patients and creating awareness, becomes an essential component of neurological practice. The term advocacy is used in medical, social, and several other contexts. Advocacy usually requires an advocate, client, or object, and usually another party or position is present. In the medical context, advocacy is often fuelled by altruistic elements. Advocacy in neurology can be achieved by different methods and at different levels. This chapter provides an introduction to the edited volume on ‘Advocacy in Neurology’ and gives an outlook on what the reader can gain from this book by summarizing recurrent themes and highlighting different approaches in individual chapters.
Advocacy in history and culture
Authors: Maderthaner Wolfgang , Grisold Wolfgang
Published: April 2019

We might well conceive of fin-de-siècle and interwar Vienna as providing the background for a paradigmatic project of Late Enlightenment: a ‘powerhouse of modernity’, as Charles Schorske once called it. The emergence of a widely renowned medical school was, in a variety of ways, characteristic for that project. Brilliant in diagnosis, nihilistic in therapy, the school searched for methods that we would nowadays categorize by the term advocacy. This chapter analyses two different yet closely interrelated concepts that are both, in their respective ways, aimed at the emancipation of the individual: Sigmund Freud’s psychoanalysis and Julius Tandler’s social reconfiguration of a whole urban body.