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Genetics of Common Disorders

Common pediatric diseases are usually multifactorial. The combination of many genes and environmental factors contribute to a complex sequence of events leading to disease. The complexity of the combination of contributing factors increases the challenge of finding genetic variants that cause disease. Genetic tools include the completed human genome sequence, public databases of genetic variants, and the human haplotype map. In addition to public genetic databases,…

Cytogenetics

Clinical cytogenetics is the study of chromosomes: their structure, function, inheritance, and abnormalities. Chromosome abnormalities are very common and occur in approximately 1–2% of live births, 5% of stillbirths, and 50% of early fetal losses in the 1st trimester of pregnancy ( Table 98.1 ). Chromosome abnormalities are more common among individuals with intellectual disability and play a significant role in the development of some neoplasias.…

Patterns of Genetic Transmission

Family History and Pedigree Notation The family history remains the most important screening tool for pediatricians in identifying a patient's risk for developing a wide range of diseases, from multifactorial conditions such as diabetes and attention-deficit/hyperactivity disorder, to single-gene disorders such as sickle cell anemia and cystic fibrosis. Through a detailed family history, the physician can often ascertain the mode of genetic transmission and the risks…

The Human Genome

The human genome has approximately 20,000 genes that encode the wide variety of proteins found in the human body. Reproductive or germline cells contain 1 copy (N) of this genetic complement and are haploid , whereas somatic (nongermline) cells contain 2 complete copies (2N) and are diploid . Genes are organized into long segments of deoxyribonucleic acid ( DNA ), which, during cell division, are compacted…

The Genetic Approach in Pediatric Medicine

Since the completion of the Human Genome Project, we have seen an unprecedented expansion in our understanding of how human health is impacted by variations in genomic sequence and epigenetic , non-sequence-based, changes that affect gene expression. This period has also seen the development and implementation of new clinical tests that have made it easier for physicians to detect such changes. In addition, there has been…

Integration of Genetics Into Pediatric Practice

Genetic testing involves analyzing genetic material to obtain information related to a person's health status using chromosomal (cytogenetic) analysis (see Chapter 98 ) or DNA-based testing. Diagnostic Testing Diagnostic genetic testing helps explain a set of signs and symptoms of a disease. The list of disorders for which specific genetic tests are available is extensive. The website provides a database of available tests that is…

Cold Injuries

The involvement of children and youth in snowmobiling, mountain climbing, winter hiking, and skiing places them at risk for cold injury. Cold injury may produce either local tissue damage, with the injury pattern depending on exposure to damp cold (frostnip, immersion foot, or trench foot), dry cold (which leads to local frostbite), or generalized systemic effects (hypothermia). Pathophysiology Ice crystals may form between or within cells,…

Burn Injuries

Burns are a leading cause of unintentional injury in children, second only to motor vehicle crashes. There has been a decline in the incidence of burn injury requiring medical care that has coincided with a stronger focus on burn treatment and prevention, increased fire and burn prevention education, greater availability of regional treatment centers, widespread use of smoke detectors, greater regulation of consumer products and occupational…

Drowning and Submersion Injury

Drowning is one of the leading causes of childhood morbidity and mortality in the world. Prevention is the most important step to reducing the impact of drowning injury, followed by early initiation of cardiopulmonary resuscitation (CPR) at the scene. Etiology Children are at risk of drowning when they are exposed to a water hazard in their environment. The World Congress of Drowning definition of drowning is…

Altitude-Associated Illness in Children (Acute Mountain Sickness)

High-altitude illness represents a spectrum of clinical entities with neurologic and pulmonary manifestations that overlap in their presentations and share common elements of pathophysiology. Acute mountain sickness (AMS) is the relatively benign and self-limited presentation, whereas high-altitude pulmonary edema (HAPE) and high-altitude cerebral edema (HACE) have potentially life-threatening manifestations. Often overlooked by travelers as high-altitude destinations are cities such as La Paz, Bolivia (3,700 meters, approximately…

Respiratory Distress and Failure

The term respiratory distress is used to indicate signs and symptoms of abnormal respiratory pattern. A child with nasal flaring, tachypnea, chest wall retractions, stridor, grunting, dyspnea, and wheezing has respiratory distress. Taken together, the magnitude of these findings is used to judge clinical severity. Nasal flaring is nonspecific, but the other signs are useful in localizing the site of pathology (see Chapter 400 ). Respiratory…

Shock

Shock is an acute process characterized by the body's inability to deliver adequate oxygen to meet the metabolic demands of vital organs and tissues. Insufficient oxygen at the tissue level is unable to support normal aerobic cellular metabolism, resulting in a shift to less efficient anaerobic metabolism. As shock progresses, increases in tissue oxygen extraction are unable to compensate for this deficiency in oxygen delivery, leading…

Syncope

Syncope is defined as a sudden transient loss of consciousness with inability to maintain postural tone. The most common cause of syncope in the normal pediatric population is neurocardiogenic syncope (vasovagal syncope, fainting). Vasovagal syncope is classically associated with a prodrome that includes diaphoresis, warmth, pallor, or feeling lightheaded and is often triggered by a specific event or situation such as pain, medical procedures, or emotional…

Brain Death

Brain death is the irreversible cessation of all functions of the entire brain, including the brainstem. It is also known as death by neurologic criteria and is legally accepted as death in the United States. Epidemiology In children, brain death usually develops after traumatic brain injury (TBI, including brain injury from nonaccidental trauma) or asphyxial injury. Pathogenesis is multifactorial, with the end result being irreversible loss…

Neurologic Emergencies and Stabilization

Neurocritical Care Principles The brain has high metabolic demands, which are further increased during growth and development. Preservation of nutrient supply to the brain is the mainstay of care for children with evolving brain injuries. Intracranial dynamics describes the physics of the interactions of the contents—brain parenchyma, blood (arterial, venous, capillary), and cerebrospinal fluid (CSF)—within the cranium. Normally, brain parenchyma accounts for up to 85% of…

Care of Abrasions and Minor Lacerations

Lacerations and Cuts Lacerations are tears of the skin caused by blunt or shearing forces. A cut (or a stab ), in contrast, is an injury inflicted by a sharp object. Although distinguishing between the two can be important for forensic purposes, their evaluation and management are similar. In this chapter, lacerations include cuts and stabs. Epidemiology More than half of the 12 million wounds treated…

Spinal Cord Injuries in Children

See also Chapter 729 . Compared with adults, spine and spinal cord injuries are rare in children, particularly young children, because of both anatomic differences and etiologies of injury. The main mechanisms of injury to the spine are motor vehicle crashes, falls, sports, and violence, which affect young children less often (see Chapter 82 ). Several anatomic differences affect the pediatric spine. The head of a…

Acute Care of Multiple Trauma

Epidemiology Injury is a leading cause of death and disability in children throughout the world (see Chapter 13 ). Deaths represent only a small fraction of the total trauma burden. Approximately 140,000 children were treated in U.S. trauma centers in 2016 for serious injury. Many survivors of trauma have permanent or temporary functional limitations. Motor vehicle–related injuries and falls rank among the top 15 causes of…

Pediatric Emergencies and Resuscitation

Injuries are the leading cause of death in American children and young adults and account for more childhood deaths than all other causes combined (see Chapter 13 ). Rapid, effective bystander cardiopulmonary resuscitation (CPR) for children is associated with survival rates as high as 70%, with good neurologic outcome. However, bystander CPR is still provided for <50% of children who experience cardiac arrest outside medical settings.…

Triage of the Acutely Ill Child

Identifying the acutely ill child in the ambulatory setting is a challenge. Children presenting to pediatricians’ offices, urgent care practices, and emergency departments (EDs) may have a range of illnesses from simple viral infections to life-threatening emergencies. Although most children in this setting will have a benign course of illness, it is incumbent on the pediatric practitioner to quickly and accurately discern which children are likely…