Pediatrics

DEFINITION: The field of medicine devoted to the care of children from birth through childhood, puberty, and adolescence.

ANATOMY OR SYSTEM AFFECTED: All

Science and Profession

The practice of pediatrics begins with birth. Most babies are born healthy and require only routine medical attention. Many hospitals, however, have a neonatology unit for babies who are born prematurely, who have disease conditions or birth defects, or who have low birth weight, weighing less than 5.5 pounds (even though they may be full-term babies). All these infants may require short-term or prolonged care by pediatricians in the neonatology unit.

The problems of premature babies usually center on the fact that they have not fully developed physically, although other factors may also be involved, such as the health and age of the pregnant person, undernourishment during pregnancy, lack of prenatal care, anemia, high blood pressure, abnormalities in the pregnant person’s reproductive organs, infectious disease, or physical trauma or injury to the pregnant person. A past record of infertility, stillbirths, abortions, and other premature births may indicate that a pregnancy will not go to full term.

Low birth weight in both premature and full-term babies is directly related to the incidence of disease and congenital defects. Low-birth-weight infants have a 50 percent higher chance of experiencing developmental problems, including hearing and vision problems and chronic conditions such as heart disease later in life. Studies have also indicated an increase in neurological problems such as attention-deficit hyperactivity disorder and autism spectrum disorder in these children.

Because the lungs are among the organs that develop late in pregnancy, many premature infants are unable to breathe on their own. Some premature babies are born before they have developed the sucking reflex, so they cannot feed on their own.

Hundreds of congenital diseases can be present in the neonate. Some are apparent at birth, and some become evident in later years. Some may be life-threatening to the infant or become life-threatening in later years. Others may be harmless.

The child may be born with an infection passed on from the pregnant person, such as rubella (German measles) or human immunodeficiency virus (HIV). Rubella may also infect the child in the womb, causing severe physical deformities, heart defects, cognitive delays, deafness, and other conditions. According to Boston Children's Hospital, genital herpes affects about 1 out of every 3,500 newborns in the United States each year in the early 2020s and may cause serious complications. A herpes infection during the second or third trimester of a pregnancy may increase the chance of preterm delivery or cesarean section. Group beta strep (GBS) infections are another serious problem for one of every 2,000 newborns in the United States, according to the American Pregnancy Association. GBS infection may cause sepsis (blood infection), meningitis, and pneumonia. Pregnant women are tested for GBS infection during pregnancy, typically at thirty-five to thirty-seven weeks. With a course of antibiotics, a person who tested positive for GBS infection has only a 1 in 4,000 chance of delivering a baby with GBS infection, compared to a 1 in 200 chance without antibiotics.

Among the most prevalent congenital birth defects are cleft lip and palate. Cleft lip occurs when the upper lip does not fuse together, leaving a visible gap that can extend from the lip to the nose. Cleft palate occurs when the gap reaches into the roof of the mouth.

Various abnormalities may be present in the hands and feet of neonates. These can be caused by congenital defects or by medications given to the pregnant person. Arms, legs, fingers, and toes may fail to develop fully or may be missing entirely. Some children are born with extra fingers or toes. In some children, fingers or toes may be webbed or fused together. Clubfoot is relatively common. In this condition, the foot is twisted, usually downward and inward.

Many congenital heart defects can afflict the child, including septal defects (openings in the septum, the wall that separates the right and left sides of the heart), the transposition of blood vessels, the constriction of blood vessels, and valve disorders. Newborns are screened for congenital heart defects before leaving the hospital after birth.

Congenital disorders of the central nervous system include spina bifida, hydrocephalus, cerebral palsy, and Down syndrome. Spina bifida is a condition in which part of a vertebra (a bone in the spinal column) fails to fuse. As a result, nerves of the spinal cord may protrude through the spinal column. This condition varies considerably in severity; mild forms can cause no significant problems, while severe forms can be crippling or life-threatening. In hydrocephalus, sometimes called “water on the brain,” fluid accumulates in the infant’s cranium, causing the head to enlarge and putting great pressure on the brain. This disorder, too, can be life-threatening.

Cerebral palsy is caused by damage to brain cells that control motor function in the body. This damage can occur before, during, or after birth. It may or may not be accompanied by mental disability. Many children with cerebral palsy appear to have below-average intelligence because they have difficulty speaking, but, in fact, their intelligence may be normal or above normal. Down syndrome (trisomy 21) is one of the most common chromosomal anomalies detected at birth, affecting approximately 6,000 babies born each year in the US in the early 2020s. It is caused by an extra chromosome passed on to the child. The distinct physical characteristics of Down syndrome include a small body, a small and rounded head, oval ears, and an enlarged tongue. Mortality is high in the first year of life because of infection or other disease.

Cystic fibrosis is one of the most serious genetic disorders of White children. Because the lungs of children with this disease cannot expel mucus efficiently, it thickens and collects, clogging air passages. The mucus also becomes a breeding ground for bacteria and infection. Other parts of the body, such as the pancreas, the digestive system, and sweat glands, can also be impaired. A common congenital disorder among Black children is sickle cell disease. It causes deformities in red blood cells that clog blood vessels, impair circulation, and increase susceptibility to infection.

One of the major problems of infancy is sudden infant death syndrome (SIDS), in which a baby that is perfectly healthy, or only slightly ill, is discovered dead in its crib. In 2022 in the United States, 1,529 infant deaths were reported as SIDS, according to the US Centers for Disease Control and Prevention. The cause is not known. The child usually shows no symptoms of disease, and autopsies reveal no evidence of smothering, choking, or strangulation. Research indicates that rebreathing of carbon dioxide and exposure to secondhand cigarette smoke and other indoor air pollution may significantly increase the risk of SIDS.

Infectious diseases are more prevalent in childhood than in later years. Among the major diseases of children (and often adults) throughout the centuries have been smallpox, malaria, diphtheria, typhus, typhoid fever, tuberculosis, measles, mumps, rubella, varicella (chickenpox), scarlet fever, pneumonia, meningitis, and pertussis (whooping cough). HIV and hepatitis infection have also become significant threats to the young.

Certain skin diseases are common in infants and young children, such as diaper rash, impetigo, neonatal acne, and seborrheic dermatitis, among a wide variety of disorders. Fungal diseases of the skin often occur in the young, usually because of close contact with other youngsters. For example, tinea pedis (athlete’s foot), tinea cruris (jock itch), and tinea corporis (a fungal infection that occurs on nonhairy areas of the body) are spread by contact with an infected playmate or by the touching of surfaces that harbor the organism. Similarly, parasitic diseases such as head lice, body lice, crab lice, or scabies are easily spread among playmates. Some skin conditions are congenital. Between 20 and 40 percent of infants are born with, or soon develop, skin lesions called hemangiomas. They may be barely perceptible or quite unsightly; they generally resolve by the age of seven.

One form of diabetes mellitus arises in childhood, insulin-dependent diabetes mellitus (IDDM) or type 1. In the healthy individual, the pancreas produces insulin, a hormone that is responsible for the metabolism of blood sugar, or glucose. In some children, the pancreas loses the ability to produce insulin, causing blood sugar to rise. When this happens, a cascade of events causes harmful effects throughout the body. In the short term, these symptoms include rapid breathing, rapid heartbeat, extreme thirst, vomiting, fever, chemical imbalances in the blood, and coma. In the long term, diabetes mellitus contributes to heart disease, atherosclerosis, kidney damage, blindness, gangrene, and a host of other conditions.

Cancer can afflict children. One of the most serious forms is acute lymphocytic leukemia. Its peak incidence is between three and five years of age, although it can also occur later in life. Leukemia is characterized by the overproduction of white blood cells (leukocytes). In acute lymphocytic leukemia, the production of lymphoblasts, immature cells that ordinarily would develop into infection-fighting lymphocytes, is greatly increased. This abnormal proliferation of immature cells interferes with the normal production of blood cells, increasing the child’s susceptibility to infection.

In addition to the wide range of diseases that can beset the infant and growing child, there are many other problems of childhood that the parent and the pediatrician must face. These problems may involve physical and behavioral development, nutrition, and relationships with parents and other children.

Both parents and pediatricians must be alert to a child’s rate of growth and mental development. Failure to thrive in infancy may indicate a range of physical problems, such as gastrointestinal, endocrine, and other internal disorders. In three-quarters of these cases, however, the cause is not a physical disorder. The child may simply be underfed because of neglect. Failure to thrive is often seen in babies who are reared in institutions where the nursing staff does not have time to caress and comfort infants individually.

Similarly, later in childhood, failure to grow at a normal rate can be caused by malnutrition or psychological factors. It could also be attributable to a deficiency in a hormone that is the body’s natural regulator of growth. If this hormone is not released in adequate supply, the child’s growth is stunted. An excess of this hormone may cause the child to grow too rapidly. Failure to grow normally may also indicate an underlying disease condition, such as heart dysfunction and malabsorption problems, in which the child does not get the necessary nutrition from food.

The parent and pediatrician must also ensure that the child is developing acceptably in other areas. Speech and language skills, teething, bone development, walking and other motor skills, toilet habits, sleep patterns, eye development, vision, and hearing have to be evaluated regularly.

Profound intellectual disability is usually evident early in life, but mild to moderate disability may not be apparent until the child starts school. Slowness in learning may be indicative of intellectual disability, but this judgment should be carefully weighed, because the real reason may be impaired hearing or vision, neglect, or an underlying disease condition. The diagnosis of developmental disabilities and neurological disorders, such as autism spectrum disorder and attention-deficit hyperactivity disorder (ADHD), has greatly increased in the twenty-first century and poses a special challenge to both parents and pediatricians.

The battery of diseases and other disorders that may beset a child remains more or less constant throughout childhood. Puberty, however, begins hormonal changes that trigger new disease threats and vast psychological upheaval. As early as eight years of age in girls and after ten or eleven years of age in boys, the body begins a prolonged series of changes that changes the child into an adult. Hormones that were previously released in minimal amounts course throughout the body in great quantities.

In boys, the sex hormones are called androgens. Chief among them is testosterone, which is secreted primarily by the testicles. It causes the sexual organs to mature and promotes the growth of hair in the genital area and armpits and on the chest. Testosterone also enlarges the larynx (voicebox), causing the voice to deepen.

Girls also produce some testosterone, but estrogens and other female sex hormones are the major hormones involved in puberty. They cause the sexual organs to mature, the hips to enlarge and become rounded, hair to grow in the genital area and armpits, the breasts to enlarge, and menstruation to begin.

Many disease conditions can arise in association with the hormonal changes that occur during puberty, such as breast abnormalities and genital infections. Far and away, the most common medical disorder at this stage, however, is acne. Acne is a direct result of the rise in testosterone that occurs during puberty. A significant percent of teenagers experience some degree of acne, and some of these will develop severe, deep acne, a serious condition that can leave lifelong scars.

Important psychological changes also occur during puberty. The personality can be altered as the developing child begins to crave independence. Ties to the family weaken, and the teenager becomes closer to their peer group. Sexual feelings can be strong and difficult to repress. In modern society, this can be the time when the teenager begins to experiment with tobacco, alcohol, drugs, or other means of achieving a “high,” although in some groups, the use of these substances begins much earlier. Substance abuse is a major problem throughout society, but it is particularly devastating among young people.

Sexual activity among teenagers is widespread and, combined with inadequate education about health issues and limited access to care, has led to significant medical problems. The incidence of sexually transmitted infections (STIs) is higher among teenagers than any other group. Teenage pregnancy is also a challenging issue in modern society.

If the pregnant teenager who continues their pregnancy is from a disadvantaged family background, they are even more likely than other pregnant teens to receive little or no prenatal care. Risks of delayed or absent prenatal care can include a fetus that is not properly nourished. Additional risks can arise from a pregnant person who smokes, drinks alcohol, or takes drugs throughout the pregnancy. In these cases, the child may often be born prematurely, with all the physical problems that premature birth involves. Hospital care of these infants is extremely costly.

Diagnostic and Treatment Techniques

Pediatrics is one of the widest-ranging medical specialties, embracing virtually all major medical disciplines. Some pediatricians are generalists, and others specialize in pediatric cardiology, pediatric endocrinology, pediatric gastroenterology, pediatric oncology and hematology, pediatric dermatology, pediatric emergency medicine, or pediatric surgery.

Doctors and nurses specializing in neonatology, including advanced practice nurse practitioners with specialty certification in pediatrics or neonatology, have radically improved the survival rates of premature and low-weight babies. In neonatal care of the premature newborn, the infant may have to be helped to breathe, fed through tubes, and otherwise maintained to allow it to develop.

Infectious diseases passed from the pregnant person to the newborn child are a particular challenge. In some cases, such as with GBS and herpes infections, appropriate antibiotics and antiviral agents can be given. In others, such as with babies born with HIV, support measures and medications that help prevent the progress of the disease are the only procedures available.

Many birth defects and deformities can be repaired or ameliorated. Disorders such as cleft lip or palate, deformities of the skeletal system, heart defects, and other physical abnormalities can often be remedied by surgery. Certain structural malformations may require prosthetic devices and/or physical therapy.

The treatment of spina bifida depends on the seriousness of the condition; surgery may be required. With hydrocephalus, medication may be helpful, but a permanent shunt is often implanted to drain fluids from the cranium. Before this technique was developed, the prognosis for babies with hydrocephalus was poor: More than half died, and a great many suffered from mental disability and physical impairment. In the twenty-first century, 70 percent or more live through infancy. Of these, about 40 percent have normal intelligence.

There is no cure for cerebral palsy, but various procedures can improve the child's quality of life, including exercise and counseling among them. Neither is there a cure for Down syndrome. If intellectual disability is profound, the child may require institutionalized care. When a child with Down syndrome can be cared for at home in a loving family, their life can be improved.

SIDS continues to be a problem both in hospitals and in the home. The American Academy of Pediatrics’ Back to Sleep campaign, in which parents are encouraged to place babies on their backs for sleeping, has been extremely successful, however, and has resulted in a decrease in the incidence of SIDS by 70 to 80 percent.

Managing the infectious diseases of childhood is one of the major concerns of pediatric providers, who are often called on to treat infections, for which they have a wide variety of antibiotics and other agents. Pediatric providers also seek to prevent infectious diseases through immunization and vaccination. Medical authorities now recommend routine vaccination of all children in the United States against diphtheria, tetanus, pertussis, measles, mumps, rubella, poliomyelitis, pneumococcal pneumonia, Hemophilus influenzae, varicella, hepatitis A and B, and human papillomavirus. Vaccines are also available against rabies, influenza, cholera, typhoid fever, plague, and yellow fever; these vaccines can be given to the child if there is a danger of infection. Vaccines for diphtheria, tetanus, and pertussis are generally given together in a combination called the DTaP vaccine. Measles, mumps, and rubella vaccines are also given together as the MMR vaccine. Repeated doses of some vaccines are necessary to ensure and maintain immunity.

Skin disorders of childhood, including teenage acne, are usually treated successfully at home with over-the-counter remedies. As with any disease, however, a severe skin disorder requires the attention of a trained provider.

Patients with diabetes mellitus type 1 are dependent on insulin throughout life. It is necessary for the pediatrician or attending nurse to teach both the parent and the patient how to inject insulin regularly, often several times a day. Furthermore, patients must monitor their blood and urine constantly to determine blood sugar levels. They must also adhere to stringent dietary regulations. This regimen of diet, insulin, and constant monitoring is often difficult for the child to learn and accept, but strict adherence is vital if the patient is to fare well and avoid the wide range of complications associated with diabetes.

Other serious conditions are now considered to be treatable. Modern pharmacology has greatly improved the prognosis of children with leukemia. Similarly, many children with growth disorders can be helped by treatments of growth hormone.

Medications and other treatment modalities for the mental disorders of childhood have improved over the years. Children with intellectual disabilities can often be taught to care for themselves, and some even grow up to live independently. Children with behavioral problems may be helped by clinicians specializing in child psychology or psychiatry.

The problems of sexuality, sexually transmitted infections, and pregnancy among teenagers have provoked a nationwide response in the United States among medical and sociological professionals. Safe-sex programs have been launched, and clinics specializing in counseling are in operation to stem the rise in teenage pregnancies.

Perspective and Prospects

Pediatrics affects virtually every member of society. Diseases that once raged through populations of all ages are now largely being controlled through the routine immunization of children. Some diseases of childhood are not yet controllable by vaccines, but research in this area remained ongoing.

Childhood health is directly related to economics. Middle-class and upper-class children have ready access to professional care for any problems that may arise. The medical and psychological needs of children living in poverty, however, are often neglected.

In an effort to improve the medical care of disadvantaged children, some vaccines are being made available at low or no cost to poor and working-class families. Programs educate parents and teachers about the need for a child to receive the full dosage of vaccine. Computerized records allow authorities to keep track of the immunization status of individual children and to alert their parents when a follow-up inoculation is due.

The psychological problems of impoverished children are at least as serious as the bodily diseases that threaten them. They may live in a universe of violence, deprivation, child neglect and abuse, and drug addiction, and they might lack a stable family environment and opportunities for advancement. Pediatric providers at all levels can advocate for these youth by becoming involved in medical, psychological, and sociological outreach programs to help disadvantaged children.

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