Pediatrics

Colic is frequent and extended periods of crying for no discernible reason in an otherwise healthy infant.

Well-child visits aim to do the following:

Vaccination has been profoundly effective in preventing serious disease (see Table: Case Rates of Some Diseases Preventable by Vaccines). Given their modest cost (particularly in comparison to drugs that must be taken long-term), vaccines are one of the most cost-effective pharmaceutical products. Vaccines have been so effective that many health care practitioners currently in practice have seen few or no cases of diseases that were once extremely common and fatal.

Many behaviors exhibited by children or adolescents concern parents or other adults. Behaviors or behavioral patterns become clinically significant if they are frequent or persistent and maladaptive (eg, interfere with emotional maturation or social and cognitive functioning). Severe behavioral problems may be classified as mental disorders (eg, oppositional defiant disorder, conduct disorder). Prevalence rates vary according to how behavioral problems are defined and measured.

Congenital hypophosphatasia is absence or low levels of serum alkaline phosphatase due to mutations in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP).

Hand washing is critical for all personnel to prevent transmission of infection.

Difficulties arise when a sick or premature infant must be taken away from the family after birth because of illness. The parents may not be able to see a critically ill infant during stabilization and may be separated from the infant because of transport to a different hospital. Some infants require prolonged separation from their families because of lengthy hospitalizations and treatments. Experts recommend that neonatal transport teams encourage physical contact between parents and their sick infant before moving the infant to the specialty care center as long as the contact does not put the infant at risk of infection.

Child maltreatment is behavior toward a child that is outside the norms of conduct and entails substantial risk of causing physical or emotional harm. Four types of maltreatment are generally recognized: physical abuse, sexual abuse, emotional abuse (psychologic abuse), and neglect. The causes of child maltreatment are varied and not completely understood. Abuse and neglect are often associated with physical injuries, delayed growth and development, and mental problems. Diagnosis is based on history, physical examination, and sometimes laboratory tests and diagnostic imaging. Management includes documentation and treatment of any injuries and urgent physical and mental conditions, mandatory reporting to appropriate state agencies, and sometimes hospitalization and/or foster care to keep the child safe.

Chromosomal anomalies cause various disorders. Anomalies that affect autosomes (the 22 paired chromosomes that are alike in males and females) are more common than those that affect sex chromosomes (X and Y).

Congenital heart disease is the most common congenital anomaly, occurring in almost 1% of live births (1). Among birth defects, congenital heart disease is the leading cause of infant mortality.

Craniofacial and musculoskeletal abnormalities are common among children. They may involve only a single, specific site (eg, cleft lip, cleft palate, clubfoot) or be part of a syndrome of multiple congenital anomalies (eg, velocardiofacial syndrome, Treacher Collins syndrome). Careful clinical assessment may be necessary to distinguish an isolated abnormality from an atypical or mildly manifested syndrome.

Most congenital gastrointestinal (GI) anomalies result in some type of intestinal obstruction, frequently manifesting with feeding difficulties, distention, and emesis at birth or within 1 or 2 days. Some congenital GI malformations, such as malrotation, have a very good outcome, whereas others, such as congenital diaphragmatic hernia, have a poor outcome, with a relatively high mortality rate of 10 to 30%.

Congenital brain anomalies usually cause severe neurologic deficits; some may be fatal.

Congenital anatomic anomalies of the genitourinary tract are more common than those of any other organ system.

Bartter syndrome and Gitelman syndrome are autosomal recessive renal disorders characterized by fluid, electrolyte, urinary, and hormonal abnormalities, including renal potassium, sodium, chloride, and hydrogen wasting; hypokalemia; hyperreninemia and hyperaldosteronism without hypertension; and metabolic alkalosis. Findings include electrolyte, growth, and sometimes neuromuscular abnormalities. Diagnosis is assisted by urine electrolyte measurements and hormone assays but is typically a diagnosis of exclusion. Treatment consists of nonsteroidal anti-inflammatory drugs, potassium-sparing diuretics, low-dose angiotensin-converting enzyme inhibitors, and electrolyte replacement.

There are over 200 disorders that involve connective tissue. Certain disorders are characterized by overactivity of the immune system with resulting inflammation and systemic damage to the tissues (eg, systemic lupus erythematosus [SLE] and juvenile idiopathic arthritis [formerly known as juvenile rheumatoid arthritis]). Other disorders involve biochemical abnormalities or structural defects of the connective tissue. Some of these disorders are inherited, and some are of unknown etiology.

Cystic fibrosis is an inherited disease of the exocrine glands affecting primarily the gastrointestinal and respiratory systems. It leads to chronic lung disease, exocrine pancreatic insufficiency, hepatobiliary disease, and abnormally high sweat electrolytes. Diagnosis is by sweat test or identification of 2 cystic fibrosis-causing mutations in patients with a positive newborn screening test result or characteristic clinical features. Treatment is supportive through aggressive multidisciplinary care along with small-molecule correctors and potentiators targeting the cystic fibrosis transmembrane conductance regulator protein defect.

Dehydration is significant depletion of body water and, to varying degrees, electrolytes. Symptoms and signs include thirst, lethargy, dry mucosa, decreased urine output, and, as the degree of dehydration progresses, tachycardia, hypotension, and shock. Diagnosis is based on history and physical examination. Treatment is with oral or IV replacement of fluid and electrolytes.

Common causes of hearing loss are genetic defects in neonates and ear infections and cerumen in children. Many cases are detected by screening, but hearing loss should be suspected if children do not respond to sounds or have delayed speech development. Diagnosis is usually by electrodiagnostic testing (evoked otoacoustic emissions testing and auditory brain stem response) in neonates and by clinical examination and tympanometry in children. Treatment for irreversible hearing loss may include a hearing aid or cochlear implant.

Congenital goiter is a diffuse or nodular enlargement of the thyroid gland present at birth. Thyroid hormone secretion may be decreased, increased, or normal. Diagnosis is by confirming thyroid size with ultrasonography. Treatment is thyroid hormone replacement when hypothyroidism is the cause. Surgery is indicated when breathing or swallowing is impaired.

Amblyopia is functional reduction in visual acuity of an eye caused by disuse during visual development. Severe loss of vision can occur in the affected eye if amblyopia is not detected and treated before age 8. Diagnosis is based on detecting a difference in best corrected visual acuity between the two eyes that is not attributable to other pathology. Treatment depends on the cause.

Gastrointestinal disorders can affect neonates and infants:

Physical growth is an increase in size. Development is growth in function and capability. Both processes highly depend on genetic, nutritional, and environmental factors.

Hereditary periodic fever syndromes are hereditary disorders characterized by recurrent fever and other symptoms that are not explained by other causes.

Urethral catheterization is insertion of a flexible catheter through the urethra into the urinary bladder.

Human immunodeficiency virus (HIV) infection is caused by the retrovirus HIV-1 (and less commonly by the related retrovirus HIV-2). Infection leads to progressive immunologic deterioration and opportunistic infections and cancers. The end stage is acquired immunodeficiency syndrome (AIDS). Diagnosis is by viral antibodies in children > 18 months and virologic nucleic acid amplification tests (such as polymerase chain reaction testing) in children < 18 months. Treatment is with combinations of antiretroviral drugs.

Neonatal infection can be acquired

Most inherited disorders of metabolism (also called inborn errors of metabolism) are caused by mutations in genes that code for enzymes; enzyme deficiency or inactivity leads to

Muscular dystrophies are inherited, progressive muscle disorders resulting from defects in one or more genes needed for normal muscle structure and function; dystrophic changes (eg, muscle fiber necrosis and regeneration) are seen on biopsy specimens. Facioscapulohumeral dystrophy is the most common form of muscular dystrophy, and Duchenne dystrophy and Becker dystrophy are the second most common. Duchenne dystrophy is a more severe form; Becker dystrophy, although closely related to Duchenne, has a later onset and causes milder symptoms.

Juvenile idiopathic arthritis is a group of rheumatic diseases that begins by age 16. Arthritis, fever, rash, adenopathy, splenomegaly, and iridocyclitis are typical of some forms. Diagnosis is clinical. Treatment involves intra-articular corticosteroids and disease-modifying antirheumatic drugs.

Attention-deficit/hyperactivity disorder (ADHD) is a syndrome of inattention, hyperactivity, and impulsivity. The 3 types of ADHD are predominantly inattentive, predominantly hyperactive/impulsive, and combined. Diagnosis is made by clinical criteria. Treatment usually includes drug therapy with stimulant drugs, behavioral therapy, and educational interventions.

Although it is sometimes assumed that childhood and adolescence are times of carefree bliss, as many as 20% of children and adolescents have one or more diagnosable mental disorders. Most of these disorders may be viewed as exaggerations or distortions of normal behaviors and emotions.

Bacterial meningitis in infants is a serious infection of the meninges and subarachnoid space. Infants may present with nonspecific symptoms and signs (eg, lethargy, irritability, poor feeding, fever or hypothermia). Diagnosis is by cerebrospinal fluid analysis. Treatment is with antimicrobials and, for selected infants, dexamethasone.

ALTE (apparent life-threatening event) and BRUE (brief, resolved, unexplained event) are not specific disorders but terms for a group of alarming symptoms that can occur in infants. They involve the sudden appearance of respiratory symptoms (eg, apnea), change in color or muscle tone, and/or altered responsiveness. The caregiver may fear that the child is dead or that his or her life is in jeopardy. Events typically occur in children < 1 year with peak incidence at 10 to 12 weeks. Some of these events are unexplained (and designated BRUEs), but others result from numerous possible causes including digestive, neurologic, respiratory, infectious, cardiac, metabolic, or traumatic (eg, resulting from abuse) disorders. Treatment is aimed at specific causes when identified.

Erythema infectiosum, acute infection with parvovirus B19, causes mild constitutional symptoms and a blotchy or maculopapular rash beginning on the cheeks and spreading primarily to exposed extremities. Diagnosis is clinical, and treatment is generally not needed.

Neurofibromatosis refers to several related disorders that have overlapping clinical manifestations but that are now understood to have distinct genetic causes. It causes various types of benign or malignant tumors that involve central or peripheral nerves and often causes pigmented skin macules and sometimes other manifestations. Diagnosis is clinical. There is no specific treatment, but benign tumors can be removed surgically, and malignant tumors (which are less common) can be treated with radiation therapy or chemotherapy.

Cerebral palsy refers to nonprogressive syndromes characterized by impaired voluntary movement or posture and resulting from prenatal developmental malformations or perinatal or postnatal central nervous system damage. Syndromes manifest before age 2 years. Diagnosis is clinical. Treatment may include physical and occupational therapy, braces, drug therapy or botulinum toxin injections, orthopedic surgery, intrathecal baclofen, or, in certain cases, dorsal rhizotomy.

Overall, childhood cancer is relatively rare, with fewer than 13,500 cases and about 1,500 deaths annually among children aged 0 to 14 years. In comparison, there are 1.4 million cases and 575,000 deaths annually among adults. However, cancer is the 2nd leading cause of death among children, following only injuries.