Common Pediatric Diseases: Current Challenges

 Children and the knowledge of taking care of them, pediatrics, are faced with growing challenges. With the advancement of medical sciences, pediatrics is becoming a group of subspecialties. This could lead to improving the care and management of pediatric disorders, however, transdisciplinary management should not be ignored. Although the health status of children has improved over the past years, still preventable child deaths are occurring, especially in low-income countries. The increased sexual abuse, discrimination, racism, increased intercountry adoption, malnutrition, environmental hazards like arsenic contamination, pornography, and surrogacy are among the most important current challenges to children’s health. Worldwide vaccination coverage has declined from 86% in 2019 to 83% in 2020, and the number of completely unvaccinated children increased by 3.4 million. Approximately, 1 billion children are dealing with multidimensional poverty all around the world among which at least 356 million of them live in extreme poverty, and 100 million more children plunged into poverty as a result of COVID-19. In this chapter, we will review the most important challenges of children’s health and pediatrics with a focus on social and mental health problems.

Historically, the concept of “sexting” (the sending of nude pictures or videos between teenage youth) has been associated with extremely negative outcomes, including legal vulnerabilities, lost future opportunities, and depression and suicide. These negative outcomes have been widely promoted in the news media and in research on the phenomena. Yet despite diligent efforts by adults to warn youth of these negative outcomes, sexting persists and may even be more common than was first thought. Almost a decade ago, the first research began to emerge that suggested that these risks may be less common than first thought. More recent research has filled out our knowledge about sexting by outlining positive outcomes of sexting that may help explain why underage youth persist in these behaviors despite draconian warnings. This paper outlines some of these positive outcomes, such as improved feelings of self-confidence and attractiveness; strengthening of existing relationships; and the view that sexting is a safe way to explore emerging sexuality. Given this mix of both potential positive and negative feelings about sexting, I propose here that sexting education should follow the best practices long established for sex education, namely, ensuring that youth understand risks, consider relationships and feelings, and do not engage in sexting because of pressure or coercion. 

Children and Young People (CYP) affected by Neurodevelopmental, Emotional, Behavioural and Intellectual Disorders (NDEBIDs) such as Attention Deficit and Hyperactive Disorder (ADHD) and Autism Spectrum Disorder (ASD) are at increased risk of other Mental Health (MH) difficulties such as anxiety and depression. Therefore, they require comprehensive and holistic services to meet their complex needs. However, many countries still offer them disjointed services involving different healthcare providers and professionals each looking at only one aspect of the CYP’s needs. To address this problem, the framework of “Integrated Care” is recommended as a template for providing comprehensive and joined-up care to meet the complex needs of these CYP with NDEBIDs and MH difficulties. This chapter aims to explore integrated care. It outlines the adverse impacts of disjointed care including: unnecessary multiple referrals, inefficient multiple assessments, delays in accessing required assessment and treatment, frustration and distress for affected CYP and their families and conflicts among professionals. Identified barriers to integrated care include problems with health planning, limited evidence-base, inter-professional difficulties related to different training and professional cultures and mental health stigma. The chapter highlights the benefits of integrated care including user satisfaction, the shortened path to point of care, systemic efficiencies and improved professional relationships. Finally, the chapter discusses the following desirable characteristics of integrated care: joint care commissioning, adequate ring-fenced funding, strategic leadership and planning, cross-training for professionals and good adherence to evidence-based protocols. Perspectives from Low and Middle-Income Countries (LMICs) were also discussed to acknowledge the international nature of the problem.

Our use of the term ‘Non-genetic transgenerational inheritance’ concerns the influence of environmental exposure to one generation on phenotypes in later generations in the absence of changes in the structure of the DNA. Although animal experiments have shown that the phenomenon exists in plants and animals, many scientists have expressed doubt as to whether this type of inheritance is detectable in humans. In this chapter, we describe the observational epidemiological data that has been published and evaluate the evidence for this type of inheritance. We mainly concentrate on the environmental exposures concerning famine, cigarette smoke and radiation, and chart the associations between pre-conception and prenatal exposures. We describe associations between these exposures and outcomes for the offspring and grandchildren. In general, we demonstrate frequent evidence of sex-specific differences in the likelihood of particular phenotypes, depending on whether it is the maternal or paternal ancestor who is exposed. We also show that the timing of the exposure is often important regarding specific outcomes, with particular emphasis on the 4-5 years before puberty for preconception exposures and the trimester of pregnancy for prenatal exposures. The evidence for non-genetic transgenerational inheritance is increasing. Interestingly, the consequences of exposures that are harmful to one generation often have a beneficial effect on a subsequent generation. It is important that future epidemiological studies are planned to collect information concerning previous and/or subsequent generations so that transgenerational consequences of exposures, such as medications or pesticides, can be charted. 

A genetic etiology is determined in more than 30% of all diagnosed cases of epilepsy with onset at the pediatric age. About 210 single disease-causing genes and 400 chromosomal imbalances are associated with epilepsy, and a presumed pathogenic role has been suggested for about 7000 different genes. Genetic epilepsies can be divided, according to the main correlated epileptogenic mechanisms, into the following groups: a) channelopathies, b) transportopathies, c) disorders of the intermediate metabolism, d) disorders of the neuronal cellular cycle and signaling, e) disorders of synaptic vesicles trafficking and release, f) disorders involving neuronal structural proteins, g) disorders of synaptic secreted proteins and h) chromosomopathies and pathogenic copy number variants. A careful diagnostic work-up should be focused on the exclusion of acquired causes of seizures, the analysis of family history, the definition of seizure semiology and epileptic syndromes, and the characterization of associated neurological and non-neurological manifestations. Traditional genetic techniques (karyotype, array CGH, and Sanger sequencing) remain useful for known epilepsy phenotypes (e.g. Dravet syndrome) and for various syndromes including neurodevelopmental impairment. Next-generation sequencing (NGS) includes different techniques (targeted gene panels and whole genome sequencing) that allow a simultaneous sequencing of exons belonging to a selected group of genes organized in panels or to the whole exome or genome. Advantages of NGS include: a) the identification of new disease-causing genes associated with epilepsy, b) an expansion of the known phenotypes associated with previously discovered disease-causing genes, c) an improvement of genetic counseling, d) a reduction of the times for the diagnosis, and e) a reduction of economic costs.

Children with cardiovascular diseases, especially congenital heart diseases are exposed to socioeconomic burdens ranging from poverty, economic difficulties, and emotional breakdown to parental schism. There are various ways by which cardiac diseases affect children. These include the effect of the disease on the child, the family and the nation as a whole. Management of cardiovascular diseases in children comprises diagnosis, investigations, medical and surgical rehabilitation/ergonomics and follow-up. All these steps in management have both medical and social implications on the child. The effects of cardiovascular diseases are not limited to health, but can seep into social life, as well. Affected individuals tend to forgo a lot of things, including restrictions in their life, depression and even family structure disintegration, decrease life expectancy and family disharmony in some cultures. The socio-economic burden of pediatric cardiovascular diseases is quite huge both for the individual, household and society. The impact includes loss in financial resources, productivity, increased disability-adjusted life years, decreased quality of life, catastrophic expenditure and premature death. These burdens are more in the low and middle-income countries. This chapter aims at eliciting the various social and economic burdens that children with heart diseases encounter in the course of their illness.

Meconium Stained Amniotic Fluid (MSAF) and Meconium Aspiration Syndrome (MAS) in newborn are commonly encountered by obstetricians and neonatologists world over, and more so in developing countries. MAS is a serious condition as it causes severe respiratory morbidity and complications like air leak, pneumothorax, Persistent Pulmonary Hypertension (PPHN), surfactant inactivation and death in many cases. There have been several changes in the management of pregnant mothers and their neonates, as well as in the endotracheal suctioning guidelines for babies born with MSAF ever since the pathogenesis of intra-uterine passage of meconium and meconium aspiration syndrome, and evidence on intervention outcomes became known. This chapter shall review the mechanism of meconium stained amniotic fluid, the pathophysiology of meconium aspiration syndrome and management of the newborn infant in the labor room, NICU and beyond, as per the present consensus. Potential newer therapies and drugs shall also be briefly addressed.

Transient Tachypnea of the Newborn (TTN) is the most common respiratory morbidity in term infants. In fetal life, the lungs are filled with fetal alveolar fluid, which is secreted by the alveolar epithelium through chloride channels. In late gestation and by the onset of labor, chloride-secreting channels switch to sodium-absorbing channels, and alveolar fluid is cleared away, leaving space for air after birth. Disorders that compromise the absorption of fetal lung fluid would end up in respiratory distress, tachypnea and hypoxemia. Elective cesarean section is the major risk factor for TTN, as well as other risk factors. Clinical features and chest radiograms are sufficient for the diagnosis. The disease is usually benign and self-limiting, but in some cases, respiratory support may be needed along with supportive treatment. The prognosis is usually good but with an increased risk of asthma in childhood.

Tumors can be formed in any organ throughout life. The fetal period is no exception to this fact, and it is important to diagnose these tumors as soon as possible to provide timely care to patients. If management is halted, tumors can cause complications in delivery, child development and even death. In this chapter, we discuss the diagnosis and management of several common fetal tumors. We also overview possible future directions in the management of tumors found during the fetal period.

Autism spectrum disorder (ASD) is a complex psychiatric and neurodevelopmental issue related to delays in the acquisition of behavioral and social skills. The main symptoms of ASD are impairments in communication, limited interest and skills in social interactions, and repetitive behavior. In the present chapter about ASD during infancy, we reviewed the behavioral indicators of ASD, different ways of diagnosis, and the significance of an early and correct diagnosis. While children with ASD are usually diagnosed between ages 2-4, many pediatricians and psychiatrists are interested in understanding the developmental course of ASD in early infancy and infancy. Such an understanding would help both infants with ASD and their family members to identify useful interventions to cope more favorably with difficulties related to the infants’ symptoms of ASD. We highlighted that ASD traits unfavorably impact a child’s and their family’s social, behavioral, and the family’s economic status and conditions. Given this, an early diagnosis and timely and appropriate interventions should mitigate ASD-related issues in everyday life. To this end, assessing a child’s behavior is the gold standard for ASD diagnosis. Most of the symptoms appear in the second year of life; often language acquisition is impaired. Considering the signs of ASD in infancy, promising perspectives on ASD diagnosis will be introduced in the future.

The concept of medical futility is explored, particularly in relation to the challenge of defining futile treatments, and the difficulties in identifying patient subgroups that strictly match the criteria for treatment futility. The issue of categorizing perinatal disorders as fatal is an important topic, with a focus on the moral and legal repercussions of identifying lethal malformation. The identification of a lethal malformation often has moral and legal repercussions, and the phrase “lethal” should be avoided unless it is precisely defined, used consistently, and covered in transparency in perinatal counseling following prenatal diagnosis. We argue that a nuanced and carefully considered approach is required, one that takes into account the complex medical and ethical issues involved, and that focuses on the best interests of the patient and their family. Overall, we highlight the importance of ethical considerations and effective communication in the provision of perinatal palliative care for fetuses with genetic disorders and congenital defects. Also, while there is much that remains uncertain and controversial in this field, continued research and discussions are necessary to ensure that the best possible care is provided for all patients and their families.