The transition from the textbook or journal article to the clinical situation is perhaps the most challenging in medicine. Retention of information is difficult; organization of the facts and recall of these myriad of data to apply to the patient are crucial. This text aids in the process. The first step is gathering information, otherwise known as establishing the database. This consists of taking the history (asking questions), performing the physical examination, and obtaining selective laboratory and/or imaging tests.
The history is the single most important method of establishing a diagnosis. Depending on the age of the child, the information may be gathered solely from the parent, from both the parent and the child, or solely from the adolescent. The student should remember not to be misled by the diagnosis of another physician or by a family member. A statement such as “Johnnie has pneumonia and needs antibiotics” may or may not be correct; an astute clinician will keep an open mind and consider other possibilities, such as upper respiratory tract infection, aspirated foreign body, reactive airway disease, or even cystic fibrosis. The art of seeking the information in a nonjudgmental, sensitive, and thorough method cannot be overemphasized.
1. Basic information:
a. Age, gender, and ethnicity are important because some childhood illnesses occur with increased regularity at various ages, with higher frequency in one gender or, more commonly, in one ethnic group. For instance, anorexia nervosa is more common in white adolescent females, whereas complications of sickle cell anemia are more common in African-American children of both genders.
2. Chief complaint: This is usually the response that the patient or the patient’s family member gives to the question: “Why are you seeing the doctor today?”
3. History of present illness: The onset, duration, and intensity of the primary complaint, as well as associated symptoms, exacerbating and relieving factors, and previous attempts at therapy should be determined. For children, especially adolescents, a hidden agenda must be considered; it is not uncommon for the adolescent to actually have questions about sexuality when the stated reason for the office visit is totally unrelated. Both positive findings (the stool was loose, voluminous, and foul-smelling) and negative findings (without blood or mucus) are appropriate.
4. Past history:
a. Pregnancy and delivery: The age of the mother, the number of pregnancies, the route of delivery, and the gestational age of the infant can often provide clues as to the etiology of pediatric conditions. For instance, a large, full-term infant born by cesarean delivery who then develops an increased respiratory rate and streakiness on chest radiograph is more likely to have transient tachypnea of the newbornthan is an infant born vaginally at 28-week gestation with similar symptoms. Similarly, a history of drug use (including over-the-counter, prescription, and illicit drugs) or infections during pregnancy should be obtained.
b. Neonatal history: Any problems identified in the neonatal period, such as severe jaundice, infections, feeding difficulties, and prolonged hospitalization, should be reviewed, especially for the younger pediatric patients in whom residua of these problems may remain.
c. Surgical history: When, where, and for what reason the surgery was performed should be explored. Complications should be noted.
d. Medical history: Whereas minor illnesses (such as occasional upper respiratory infections) can be reviewed quickly, more serious illnesses (such as diabetes mellitus) should be investigated fully. The age at diagnosis, treatments prescribed, and response to therapies can be reviewed. The number and nature of hospitalizations and complications are often important. For instance, a diabetic patient with frequent hospitalizations for ketoacidosis may indicate a lack of education of the family or underlying psychosocial issues complicating therapy. A child with a history of frequent, serious accidents should alert the physician of possible child abuse.
e. Developmental history: For preschool children, a few questions about language and fine motor, gross motor, and psychosocial skills will provide good clues about development. For school-aged children, areas of strength and weaknesses are helpful.
5. Allergies: Reactions to medications should be recorded, including severity and temporal relationship to medications.
6. Immunizations: Dates for primary and booster series of immunizations should be recorded, preferably by reviewing the immunization cards. If the child is in school, a presumption about state laws regarding immunization completion can be made while the immunization card is being retrieved.
7. Medications: List the names of current medications, dosages, routes of administration and frequency, and durations of use. Prescription, over-the-counter, and herbal remedies are relevant.
8. Sexual history of adolescents: Details of an adolescent’s sexual habits, contraceptive use, pregnancies, and sexually transmitted diseases should be determined.
The adolescent must be treated with sensitivity, respect, and confidentiality to foster the optimal environment for medical care.
9. Family history: Because many conditions are inherited, the ages and health of siblings, parents, grandparents, and other family members can provide important diagnostic clues. For instance, an obese child with a family history of adult-onset diabetes is at high risk for developing diabetes; early intervention is warranted.
10. Social history: Living arrangements, economic situations, type of insurance, and religious affiliations may provide important clues to a puzzling diagnostic case or suggest important information about the acceptability of therapeutic options.
11. Review of systems: A few questions about each of the major body systems allows the practitioner to ensure that no problems are overlooked and to obtain crucial history about related and unrelated medical conditions.
1. General appearance: Well- versus poorly nourished; evidence of toxemia, including lethargy (defined as poor or absent eye contact and refusal to interact with environment), signs of poor perfusion, hypo- or hyperventilation, and cyanosis; or stigmata of syndromes (such as Down or Turner).
2. Skin: In smaller children, checking the color of the skin for evidence of pallor, plethora, jaundice, or cyanosis is important. Abnormalities such as capillary hemangiomas (eg, “stork bites” in a newborn), café-au-lait spots, pigmented nevi (eg, “Mongolian spots”), erythema toxicum, or pustular melanosis can be identified. In older children, macules, papules, vesicles, pustules, wheals, and petechiae or purpura should be described, and evidence of excoriation, crust formation, desquamation, hyperpigmentation, ulceration, scar formation, or atrophy should be identified.
3. Vital signs: Temperature, blood pressure (generally begin routine measurement after 3 years), heart rate, respiratory rate, height, weight, and head circumference (generally measured until age 3 years). Measurements are plotted and compared to normals for age.
4. Head, eyes, ears, nose, mouth and throat:
a. Head: For the neonate, the size of fontanelles and presence of overriding sutures, caput succedaneum (superficial edema or hematoma that crosses suture lines, usually located over crown), or cephalohematoma (hematoma that does not cross suture lines) should be noted. For the older child, the size and shape of the head as well as abnormalities such as swellings, depressions, or abnormal hair quality or distribution may be identified.
b. Eyes: For infants, abnormalities in the size, shape, and position of the orbits, the color of the sclera (blue sclera, for instance, may indicate osteogenesis imperfecta), conjunctival hemorrhages or abnormalities, or the presence of iris defects (such as coloboma) may be found. The visual acuity of older children should be determined.
c. Ears: For all children, abnormalities in the size, shape, and position of the ears can provide important diagnostic clues. Whereas tympanic membranes are difficult to assess in newborns, their integrity should be assessed in older children. For all children, the quality and character of discharge from the ear canal should be documented.
d. Nose: The size, shape, and position of the nose (in relation to the face and mouth) can provide diagnostic clues for various syndromes, such as a small nose in Down syndrome. Patency of the nostrils, especially in neonates who are obligate nose breathers, is imperative. Abnormalities of the nasal bridge or septum, integrity of the mucosa, and the presence of foreign bodies should be noted. A butterfly rash around the nose can be associated with systemic lupus erythematosus (SLE), and a transverse crease across the anterior portion of the nose is seen with allergic rhinitis.
e. Mouth and throat: The size, shape, and position of the mouth and lips in relation to other facial structures should be evaluated. In infants, common findings of the mouth include disruption of the palate (cleft palate syndrome), Epstein pearls (a tiny white papule in the center of the palate), and short frenulum (“tongue-tied”). For all children, the size, shape, and position of the tongue and uvula must be considered. The number and quality of teeth for age should be assessed, and the buccal mucosa and pharynx should be examined for color, rashes, exudate, size of tonsils, and symmetry.
5. Neck: The neck in infants usually is short and sometimes hard to evaluate. Nonetheless, the size, shape, and preferred position of the neck can be evaluated for all children. The range of motion can be evaluated by gentle movement. Symmetry of the muscles, thyroid gland, veins, and arteries is important. An abnormal mass, such as a thyroglossal duct cyst (midline above the level of the thyroid) or brachial cleft cyst (along the sternomastoid muscle), or unusual findings, such as webbing in Turner syndrome, can be identified.
6. Chest: General examination of the chest should include an evaluation of the size and shape of the structures along with identification of obvious abnormalities (such as supernumerary nipples) or movement with respirations. Respiratory rate varies according to age and ranges from 40 to 60 breaths/min in the neonate to 12 to 14 breaths/min in the toddler. The degree of respiratory distress can be stratified, with increasing distress noted when the child moves from subcostal to intercostal to supraclavicular to suprasternal retractions. Palpation of the chest should confirm the integrity of the ribs and clavicles, and any swelling or tenderness in the joints. Percussion in older children may reveal abnormalities, especially if asymmetry is noted. The chest should be auscultated for air movement, vocal resonance, rales, rhonchi, wheezes, and rubs. In adolescent girls, symmetry of breast development and presence of masses or nipple discharge should be evaluated.
7. Cardiovascular: The precardium should be inspected for abnormal movements. The chest should be palpated for the location and quality of the cardiac impulse, and to determine if a thrill is present. The presence and quality of the first and second heart sounds, including splitting with respirations, should be noted. Murmurs, clicks, rubs, and abnormalities in rate (which vary by age) or rhythm should be identified. The peripheral perfusion, pulses, and color should be assessed.
8. Abdominal examination: The abdomen should be inspected to determine whether it is flat or protuberant, if masses or lesions such as striae are obvious, or if pulsations are present. In older children, the abdomen usually is flat, but in the neonate a very flat abdomen in conjunction with respiratory distress may indicate diaphragmatic hernia. The umbilicus, especially for neonates, should be evaluated for defects, drainage, or masses; a small umbilical hernia often is present and is normal. In the newborn, one umbilical vein and two umbilical arteries are normal. In the neonate, palpation of the abdomen may reveal a liver edge about 2 cm below the coastal margin, a spleen tip, and using deep pressure, kidneys. In older children, these structures are not usually palpable except in pathology. Depending on the history, other masses must be viewed with suspicion for a variety of conditions. Bowel sounds are usually heard throughout the abdomen except in pathology. In adolescent females, the lower abdomen should be palpated for uterine enlargement (pregnancy).
9. Genitalia: Examination of the male for the size and shape of the penis, testicles, and scrotum is important. The position of the urethral opening should be assessed. In newborn girls, the labia majora usually is large and completely encloses the labia minora; the genitalia usually is highly pigmented and swollen with an especially prominent clitoris. A white discharge is usually present in the first days of life, and occasionally a blood-tinged fluid is also seen. In toddlers, examination of the genitalia can be challenging. Placing the toddler in a frog-leg position while the toddler sits in the parent’s lap (or on the examination table) often allows successful viewing of external genitalia. In older girls, the knee-chest position affords an excellent view of the external genitalia. In girls outside the newborn period, the labia minora are smaller compared to the remainder of the external genitalia, and the vaginal mucosa is red and appears thin. The hymen, which is just inside the introitus, should be inspected. Abnormalities of the hymen, such as imperforation or tags, vaginal discharge, foreign bodies, and labial adhesions, may be noted. A speculum examination should be performed for sexually active adolescent girls. Tanner staging for pubertal development should be done for both boys and girls. Inguinal hernias should be identified; normalcy of anus should be confirmed.
10. Extremities: For all children, the size, shape, and symmetry of the extremities should be considered; muscle strength should be evaluated. Joints may be investigated for range of motion, warmth, tenderness, and redness. Normalcy of gait for age should be reviewed. For infants, recognition of dislocated hips is of critical importance, as lifelong growth abnormalities may result. For adolescents, identification of scoliosis is important to prevent the debilitating complications of that condition. Athletes require evaluation of the integrity of their joints, especially those joints that will be used in sporting activities.
11. Neurologic: Neurologic evaluation of the older child is similar to that in adults. Consciousness level and orientation are determined as a starting point. The cranial nerves should be assessed. The motor system should be evaluated (including strength, tone, coordination, and involuntary movements). Superficial and deep sensory systems, and deep tendon reflexes should be reviewed. In younger infants a variety of normal primitive reflexes (Moro, parachute, suck, grasp) can be found, but ensuring that these reflexes have extinguished by the appropriate age is equally important.
The American Academy of Pediatrics recommends a few laboratory screening tests be accomplished for pediatric patients. These tests vary according to the child’s age and risk factors.
1. Newborn metabolic screening is done in all states, usually after 24 hours of age, but the exact tests performed vary by state. Conditions commonly screened for include hypothyroidism, phenylketonuria, galactosemia, hemoglobin type, and adrenal hyperplasia. Other conditions that may be assessed include maple syrup urine disease, homocystinuria, biotinidase deficiency, cystic fibrosis, tyrosinemia, and toxoplasmosis. Some states require a second newborn screen be performed after 7 days of age.
2. Hemoglobin or hematocrit levels are recommended for high-risk infants (especially premature infants and those with low birth weight), at 9 to 12 months of age, and yearly on all menstruating adolescents.
3. Urinalyses are recommended at 9 to 12 months of age and at 5 years of age, and dipstick urinalysis for leukocytes annually for sexually active adolescents.
4. Lead screening is done, especially in high-risk areas, at 9 to 12 months of age, and again at 2 years of age.
5. Cholesterol screening is performed in high-risk patients (those with positive family histories) older than 24 months.
6. Sexually transmitted disease screening is performed yearly on all sexually active patients.
Other specialized testing is accomplished depending on the child’s age, risk factors, chief complaint, and conditions included in the differential diagnosis.
1. Plain radiographs offer the advantage of inexpensive testing that reveals global views of the anatomy. Unfortunately, fine organ detail is not revealed sometimes, requiring further radiographic study. Bone films for fracture, chest films for pneumonia, and abdomen films for ileus are common uses of this modality.
2. Ultrasonography is a fairly inexpensive modality that requires little or no sedation and has no radiation risks. It offers good organ and anatomic detail, but it can be operator dependent. Not all organs are accessible to sonography. Common examinations include the head for intraventricular hemorrhage (IVH) in the premature infant, the abdomen for conditions such as pyloric stenosis, and the kidneys for abnormal structure.
3. Computer tomography (CT) provides good organ and anatomic detail and is quick, but it is fairly expensive, may require contrast, and does involve radiation. Some children require sedation to complete the procedure. This test is often performed on the abdomen or head in trauma victims.
4. Magnetic resonance imaging (MRI) is expensive but does not involve radiation. Because it is a slow procedure, sedation is often needed for younger children, and contrast is sometimes required. It allows for superb tissue contrast in multiple planes, and excellent anatomic and functional imaging. It is frequently used to provide detail of the brain in patients with seizures or developmental delay, or to provide tissue detail on a mass located virtually anywhere in the body.
5. Nuclear scan is moderately expensive and invasive. It provides functional information (usually organ specific) but provides poor anatomic detail. Radiation is involved. Common uses include bone scans for infection and renal scans for function.