Chapter 1. History and Examination

Children who present with neurological problems or developmental abnormalities on general physical examination should undergo a complete neurological assessment.1,2 Initially, as much information as possible from the parents or caregivers should be obtained during the first visit. During the initial clinical encounter, the examiner should formulate an opinion regarding possible causes (Table 1-1). A diagnostic hypothesis can then be confirmed, supported, or rejected by the neurological and physical examinations, laboratory tests, and other tests. A clear chief complaint is probably one of the most important first steps, and is best elicited from the child, parents, or caretakers. It is common that school-age children may often provide their own chief complaint. The chief complaint should represent the exact words or expression of the child or parent and not a reinterpretation of the symptoms by the physician. Ideally, the child or parent should be allowed to freely tell the story without interruption or distractions. However, brief directed questions can help focus the interview, especially if the history begins to wander. It is important to note that one should be certain that interrupting will not result in suppression or skewing of important information and the parent's concerns.

Information related to the timing of the onset of symptoms (acute, progressive, and chronic) should be obtained. It is also important to develop optimal rapport with both the parents and child. An environment that is both child friendly, free of distractions, and age appropriate will help to facilitate an ambience of ease for both child and parent. Parents are quick to pick up on a hurried care-provider, so allowing at least 1 hour or more for a new consultation and at least 30 minutes for follow-up visits is important to keep in mind. Additional questions such as precipitating factors or triggers, past or concurrent illnesses, toxic exposures, sick contacts, travel history, and changes in mood or appetite are just some of the other pertinent items that should be obtained. In most cases at this point, the examiner should be able to attempt to develop an initial interpretation of the most likely diagnoses before proceeding to gather more details.

A complete birth history is probably the most important item in the past medical history. Information about the length of pregnancy, complications, use of medication or drugs, and details about the immediate and first days and weeks following birth should be obtained. Prenatal and perinatal events—including duration of labor, route and means of delivery, and Apgar scores—should be obtained. Obtaining developmental milestones is an important reflection of the maturation of the child's nervous system, and assessing development is an essential part of the pediatric neurological assessment. In assessing the child's developmental level, the examiner must know the age when key social, motor, and language skills are normally acquired. There are several screening tools that can be useful for this, such as the Denver Developmental Screening Test II. Delay in obtaining developmental milestones and abnormal patterns of development are important indicators of underlying neurological disease.

When taking a developmental history, key principles of neurodevelopment should be kept in mind. The development of motor control proceeds in a head-to-toe fashion. Head control develops first, then trunk control (sitting), and finally control of the lower extremities (walking). Primitive reflexes (such as the Moro, grasp, and Galant reflexes) are normally present in the term infant and diminish over the next 4 to 6 months of life. The postural reflexes (such as the positive support, Landau, lateral propping, and parachute reflexes) emerge at 3 to 8 months of age. Persistence of primitive reflexes and the lack of development of the postural reflexes are the hallmark of an upper motor neuron abnormality in the infant and should be further investigated.

During the general physical examination (Table 1-2), certain characteristics of the general examination are particularly important to note:

• Somatic growth. Measure height and weight, and compare percentiles with head circumference.
• Skin. A careful complete skin search is important. Look for the stigmata of the neurocutaneous syndromes such as café au lait or ash leaf lesions, hypopigmentation, or port wine stains.
• Dysmorphic features. Carefully make note of the face especially the midface, ears, eye separation, head shape, neck, and extremities.
• Eye examination. This part of the exam is often left for last, as children are often uncooperative and it is difficult to clearly observe eye grounds when the child is moving or fails to focus on a distant object.
• Abdomen. Palpate for organomegaly, which can indicate the presence of one of the storage diseases or neuroblastoma, for example.
• Spine. Look for scoliosis, any sacral anomalies, clefts, dimples, or tufts of hair.

Examination of the nervous system is often deemed by many physicians as one of the most difficult parts of the physical examination. Often, the infant and young child are unable to fully cooperate for the formal neurological examination. Therefore, the examiner must be able to accommodate to the child and his or her developmental level and mood. The first part of the examination is observational, making note of the child's spontaneous movements, how he or she interacts with the parents or caregivers, and spontaneous speech. Initial hands-off careful observation allows for assessment of mental status, cranial nerves, coordination, and motor status. The second part of the examination requires hands-on assessment of cranial nerves, motor and sensory systems, reflexes, and gait. The neurological examination is usually best accomplished if one makes it into a game that engages the child's curiosity and is fun for both the child and examiner. The use of toys can be of great assistance, as these will stimulate the child's imagination and make for a more rewarding experience and accurate exam. The use of finger puppets for coordination testing and saccades, as well as cups, balls, bells, lights, crayons and paper, cubes, and rattles are just a few examples. The last part of the examination is usually reserved for those things that are the most threatening and uncomfortable for the child, such as fundoscopy, otoscopy, undressing the child for a complete examination, or measuring the head circumference.

Head Circumference

An important part of evaluating brain development is measuring the growth of the brain by measuring the head circumference. The head circumference is obtained by placing the measuring tape around the most prominent aspect of the frontal and occipital bones, which forms the occipital-frontal circumference (OFC) measurement. The most accurate measurements are obtained with a plastic tape measure rather than a paper tape measure because the paper can stretch. The brain grows to 80% of its adult volume during the first 2 years of life, so many neurological diseases that occur early in life will impact the growth of the brain. A small head (microcephaly) or a large head (macrocephaly or hydrocephalus) can be key findings in explaining neurological abnormalities of a child. It is essential to plot head circumference for girls and boys on a standardized head growth chart for the appropriate sex (Figures 1-1 and 1-2).4 Also, palpate the sutures and outline the anterior and posterior fontanels. Posterior fontanels close by 6 weeks. Anterior fontanels close by 12 to 14 months, and sutures close by 3 to 4 years.5-7

Mental Status

In the acutely ill child, the level of consciousness is the most important part of the neurological examination. Alterations in the level of consciousness, as during an infectious process such as meningitis or encephalitis, will often be the first manifestation of illness. The mental status can be assessed by noting the child's spontaneous activities as you enter the room, such as talking or sleeping. Sometimes a stimulus is required to awaken the patient, such as calling his or her name, or gently pinching the arm. Seeing how the child reacts once you stop stimulation should be taken into account. The child may be observed for clear speech and making sense while talking. Orientation to person, place, and time should be determined, and age-appropriate tests for memory might include immediate (digit span forwards and backwards), short-term (food for breakfast), and long-term (name of teacher, friend, or school) memory. One of the best times to examine a baby is between feeds. If interrupted during a feed, the baby may cry excessively, limiting the examination. If examined immediately after a feed, the baby may be too sleepy to obtain an optimal examination. Observation of the newborn's spontaneous eye opening, movements of the face and extremities, and response to stimulation are essential for the mental status examination. Arousal is defined by the duration of eye opening and spontaneous movement of the face and extremities. Before 28 weeks gestation, the newborn states of wakefulness and sleep are difficult to distinguish. As the newborn matures, there is increasing duration, frequency, and quality of alertness.

At 12 months of age, most children imitate activities, wave bye-bye, and play pat-a-cake. They can follow simple commands, especially if the desired action is demonstrated. They feed themselves finger foods. They usually have one or two meaningful words, usually "mama" and "dada." At 18 months, most children have a vocabulary of 10 or more words and will use single words to indicate wants. They should be able to point to at least two of the pictures from the Denver II assessment tool, and can name at least two body parts. Between 18 and 30 months the toddler should learn to identify 6 to 8 body parts, and at 2.5 years of age, the child should be able to build a tower six to eight blocks high. By 3 years of age, a child should be able to draw a circle, and at 4 years of age, copy a cross.

Cranial Nerves

The cranial nerves (CN) can usually be reliably tested provided that the child is cooperative and at ease. The evaluation of CN I (olfactory nerve) can be reliably tested only if the nasal cavity is unobstructed and free of mucus. The common cold is usually the most frequent cause of impaired olfaction. Each nostril should be tested separately by presenting a non-irritating odor such as cinnamon, cloves, or lavender. Cranial nerves II and III can be tested by the pupillary reflex, which appears consistently at 32 to 35 weeks gestation. A 28-week infant will blink to light shone into the eyes, testing CN II and VII. Beginning at 34 weeks of gestation, an infant will be able to fix and follow on an object, thus testing CN II, III, IV, and VI. Spontaneous roving eye movements and dysconjugate eye movements not fixing on an object are common in the term infant. Another maneuver to test eye movements is to hold the baby by the axillae and rotate the infant from side to side to test the oculovestibular reflex. Not only does this test acuity in the duration of the postrotational nystagmus, but also the integrity of the vestibular system.

The key to seeing the optic disc is the child's visual fixation at a point straight ahead and 15 degrees up. Have the young child fixate on the mother, who often needs to be exceptionally animated in order to get the child's attention. The optic discs and macula and general appearance of the retina and retinal vessels should be evaluated. Disc sharpness refers to the sharpness of the distinction between the yellow optic disc and the pink retina. Disc flatness refers to whether or not the optic disc is mounded up where it comes out of the retina. When the disc is elevated, the vessels may be noted to course downwards as they traverse over the optic disc. While acute papilledema may take 48 hours or more to manifest itself, the first sign is usually loss of spontaneous venous pulsations. Their presence is reassuring that there is probably no significant elevation of intracranial pressure at this moment. This does not mean that there is no serious intracranial pathology, or that there will not be signs and symptoms of raised pressure later. Note that spontaneous venous pulsations may not be detected in many normal patients. One should be aware that multiple small areas of retinal hemorrhages can be present in 20% to 40% of normal vaginally delivered infants, which generally resolve within 1 to 2 weeks.

Facial sensation (CN V) is tested with light pinprick and by observing facial grimace or change in sucking. Facial symmetry and movement should be observed in both the quiet state and during active movement (such as crying). Hearing (CN VIII) can be grossly tested with a bell, keeping in mind that a ringing bell within an isolette can be quite loud and generate 90 dB. If a hearing deficit is suspected, then formal audiometric or brainstem evoked potentials should be performed by a specialist. Often, the newborn may have a very subtle response to auditory stimuli and respond with only a blink. To test CN V, VII, and XII, the newborn can be observed sucking on a pacifier. This can also be used to evaluate CN IX and X, which are tested when the child swallows. As the brainstem matures, coordination improves by the 32nd to 34th week. Palpation of the sternocleidomastoid (CN XI) may be difficult in the newborn or young child, but may be facilitated by extending the head on the side of the bed with the infant in a supine position. Now the bulk of the muscle can be palpated as the head is turned to the side. Cranial nerve XII is mainly responsible for movement of the tongue and may be tested by having the child stick out the tongue and speak.

Motor Examination and Balance

Evaluation of the motor system includes assessment of muscle bulk, tone, strength, stretch reflexes, and whether a plantar response (Babinski sign) is extensor or flexor (Table 1-3). They should always be symmetric, but can be present or absent up to 1 year of age. Assessment of the muscle strength of infants is primarily limited to inspection. Observation of the resting posture can reveal the symmetry and maturity of the passive tone. It is important to keep the head midline to avoid asymmetries in tone related to the asymmetric tonic neck reflex (Table 1-4).

Flexor tone or resistance to passive movement usually develops first in the lower extremities and proceeds cephalad. A 28-week infant will lie with minimally flexed limbs and have minimal resistance to passive movement of all extremities. At 32 weeks, the newborn develops flexor tone at the hips and knees, with some resistance to manipulation of the lower extremities. This progression correlates with increasing myelination of the subcortical motor pathways originating in the brainstem. By 36 weeks, the infant develops flexion at the elbows, and by term, the infant is flexed in all extremities. For a term newborn, the resting posture is flexion of the extremities with the extremities closely adducted to the trunk. After the first few days of life, the extremities are still predominantly in the flexed position, but they are not as tightly adducted as they are in the first 48 hours of life. The tone of the shoulder girdle is assessed by taking the baby's hand and pulling the hand to the opposite shoulder like a scarf. The hand should not go past the shoulder, and the elbow should not cross the midline of the chest. Arm recoil tests tone and action of the biceps. The arms are held in flexion against the chest for a few seconds, and then are quickly extended and released. The arms should spring back to the flexed position. The hypotonic infant will have slow incomplete recoil. Asymmetry to this response with lack of recoil would be seen with Erb or brachial plexus palsy. Arm traction is done with the baby in the supine position. The wrist is grasped and the arm is pulled until the shoulder is slightly off the mat. There should be some flexion maintained at the elbow. Full extension at the elbow is seen in hypotonia. Assessing motor function of the upper extremities begins with passive range of motion. Each extremity is rotated at the shoulder, elbow, and wrist, feeling for resistance and the range of movement. Too much resistance reflects hypertonia, while too little resistance indicates hypotonia.

Rubbing the ulnar aspect of the hand or touching the dorsum of the hand will often cause extension of the fingers. A newborn infant's hand is held in a fisted position with the fingers flexed over the thumb. The hand should open intermittently and should not always be held in a tight-fisted position. Over the first 1 to 2 months of life, the infant's hand becomes more open. Persistence of a fisted hand is a sign of an upper motor neuron lesion in an infant and is often referred to as a "cortical thumb." The popliteal angle is an assessment of the tone of the hamstring muscles. It is done one leg at a time. The thigh is flexed on the abdomen with one hand and then the other hand straightens the leg by pushing on the back of the ankle until there is firm resistance to the movement. The angle between the thigh and the leg is typically about 90 degrees. Extension of the leg beyond 90 to 120 degrees is seen in hypotonia. The strength and tone of the neck extensors can be tested by having the infant in sitting position and neck flexed so the baby's chin is on the chest. The infant should be able to bring the head to the upright position. The neck flexors can be tested by having the head in extension while in the sitting position. The infant should be able to bring the head to the upright position. These tests are an extension of the test for head lag, and are done at the same time. In the prone position, the baby should be able to extend the neck to the point where the head can be turned side to side. When the arms are extended by the side of the trunk, the baby should be able to bring them forward into a flexed position. Ventral suspension is a good way to assess a baby's neck and trunk tone. The infant is placed in the prone position, suspended in the air by the hand placed under the chest. The infant's head position, back, and extremities are observed. The head should stay in the same plane as the back. The back should show some resistance to gravity and not be simply draped over the hand on the chest. Finally, for the vertical suspension maneuver, the examiner holds the infant in the upright position with feet off the ground by placing the hands under the arms and around the chest. The infant should be suspended in this position without slipping through the hands of the examiner.

In toddlers and older children, strength may be tested by having the child push and pull against the physician's hands with his or her arms and legs. The child may be asked to squeeze fingers or hop, skip, or jump. Pronator drift is a sensitive test for upper motor neuron weakness, which can detect weakness missed on manual motor testing. The child extends the arms palms down with eyes closed, and a few seconds later, the child turns the arms palms up. During this turning maneuver, a child with upper motor neuron weakness may pull the elbow down and in, or drift toward a pronator position. Finally, observe the arm position when the palms are up. During this maneuver, the eyes should remain closed. Observe for any asymmetric pronation, drift, or finger flexion. Mild symptoms may be provoked by asking the patient to shake the head "no." Manual motor testing can usually be done with children starting around 5 years of age. Test flexion and extension at each joint. In a central lesion, the weakest muscles will be the extensors in the upper extremities and the flexors in the lower extremities. For the lower extremities, the great toe extensor and ankle dorsiflexors are the best screening tests for upper motor neuron lesions. Muscle weakness can best be detected if the muscles are tested at mechanical disadvantage. For example, test the triceps starting with the elbow flexed, and then asking the patient to push away. Functional motor tests, such as getting up from the ground, using stairs, and gait testing, have several uses. First, they may be the best way to pick up proximal weakness, as seen in myopathies. Second, they may be the only way to gain the cooperation of younger children. Third, functional tests can often be used as developmental landmarks. These include the parachute (child puts arms out when tilted forward by 12 months age), and then the wheelbarrow. Asymmetry of these reflexes may indicate focal weakness.

Balance is evaluated by having the older child stand with eyes closed while being gently pushed to one side or the other. Joints may also be checked simply by passive (performed by the physician) and active (performed by the child) movement. In younger children, balance is assessed by having the infant or young child reach out and pick up an object and bring it to his or her mouth.

Right versus left hand preference before 1 year of age is always abnormal and indicates a motor deficit in the nonpreferred hand. At 5 to 6 months, the child should be able to transfer an object from hand to hand, and grasp objects that are the size of a one-inch cube. A thumb-finger pincer grasp develops at 7 to 9 months. Independent sitting is usually accomplished by 6 to 8 months, and independent walking is achieved between 11 and 15 months of age. An infant is delayed if he or she is not walking by 16 months.

Sensory Examination

The sensory examination is performed using light touch and mild pinprick. Emphasis should be placed on dermatomal evaluation of the lower extremities—for example, the sacral region in a child with a neural tube defect. Assessment of sensation can be made by using the sharp end of a wooden cotton applicator on the face and observing the facial grimace or change in state of the infant. In older children, touch the child's legs, arms, or other parts of the body and have him or her identify the sensation (eg, hot/cold, sharp/dull).

Reflexes

Reflexes in the older child can be easily elicited in the biceps, triceps, brachioradialis, knees, and ankles. Cross adductor responses and unsustained clonus are common and normal in the newborn and infant up until 1 year of age.

Infant Reflexes

In newborns and infants, reflexes called infant reflexes or primitive reflexes are good indicators of normal or abnormal brain development. Each of these reflexes appears and disappears at a certain age as the infant develops. Examples of infant primitive reflexes are as follows:

• 1. Blinking. The infant will close the eyes in response to bright lights.
• 2. Babinski reflex. As the infant's foot is stroked, the toes will extend upward.
• 3. Moro reflex. Best elicited by dropping the head in relation to the body, into the examiner's hands. A quick change in the infant's position will cause the infant to throw the arms outward, open the hands, and throw back the head.
• 4. Asymmetric tonic neck reflex. Elicited by rotating the head to one side, with subsequent elbow extension to the side the head is turned, and elbow flexion on the side of the occiput. At 6 months of age most infants lose the Moro reflex and the asymmetric tonic neck reflex. Persistence of either one of these primitive reflexes would be abnormal.
• 5. Galant reflex. Obtained by placing the baby in ventral suspension, then stroking the skin on one side of the back. The baby's trunk and hips should swing towards the side of the stimulus.
• 6. Palmar and plantar grasp. Elicited by stimulating the palm with an object. The palmar grasp is present at 28 weeks gestation, strong at 32 weeks, and is strong enough at 37 weeks to lift the baby off the bed. This reflex disappears at 2 months of age with the development of a voluntary grasp.
• 7. Startle reflex. A loud noise will cause the infant to extend and flex the arms while the hands remain in a fist.
• 8. Placing reflex. The infant is held under the axilla in an upright position, and the dorsal aspect of the foot is brushed against a tabletop. The infant's hip and knee will flex, and the infant will appear to take a step. This reflex is useful if asymmetry occurs and may indicate a lesion in the basal ganglia, brainstem, or spinal cord. However, performing this reflex can be limited by the constraints of the isolette, endotracheal tube, or multiple lines.
• 9. Landau reflex. When the infant is suspended by the examiner's hand in the prone position, the head will extend above the plane of the trunk. The Landau reflex is an important postural reflex and should develop by 4 to 5 months of age. The development of postural reflexes is essential for independent sitting and walking.
• 10. Parachute reflex. When the baby is turned face down towards the mat, the arms will extend as if the baby is trying to catch himself or herself. The parachute reflex is the last of the postural reflexes to develop. It usually appears at 8 to 9 months of age.

Cerebellar Functions and Gait

Rapid alternating movements may be clumsy with either cerebellar or upper motor neuron disorders. Each side should be tested independently. Cerebellar functions should be assessed with finger to nose, heel to shin, and Rhomberg maneuvers. Casual walking and heel-to-toe walking are best performed if the child is asked to walk towards the parent or caregiver. If the parent extends arms out, then the child will also put out his or her arms, eliciting a type of drift test.