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Detailed neurologic assessment of infants and children

Detailed neurologic assessment of infants and children
Literature review current through: Jan 2024.
This topic last updated: Aug 03, 2022.

INTRODUCTION — Infants and children who present with or who are found to have neurologic or neuromuscular abnormalities on a general physical examination should undergo a complete neurologic assessment [1,2]. The elements of a complete neurologic assessment are:

Focused clinical history

Detailed neurologic examination

Additional parts of the general physical examination that are relevant to child neurology

In some cases, developmental screening tests are also helpful.

These steps are detailed in this topic review. The neurologic assessments of neonates and adults are discussed separately. (See "Neurologic examination of the newborn" and "The detailed neurologic examination in adults".)

THE CASE HISTORY — The objectives of taking a clinical history are to establish rapport and trust with the child and family, understand the nature of their health concerns regardless of whether or not they pertain to the nervous system, and anatomically localize the neurologic symptoms. A skilled clinician is often able to arrive at a diagnosis by the time a complete history has been taken and uses the examination to confirm the diagnosis and determine the extent of impairment.

History of present illness — The clinician should attempt to fully characterize the patient's symptoms, including:

The duration of symptoms.

Whether symptoms are constant or episodic (episodic symptoms are characteristic of transient ischemic attack, syncope, seizure, or migraine).

Whether symptoms are static, progressive, or resolving.

Whether there is a pattern that suggests localization to a specific anatomic region. As examples:

Involvement of the cerebral cortex should be suspected in patients with cognitive dysfunction and/or seizures

Involvement of the brainstem may be accompanied by double vision, dizziness, dysphagia, hoarseness of voice, or impaired equilibrium

Cerebellar disorders may be associated with altered equilibrium and coordination in the trunk or extremities

Disorders of the spinal cord may result in dissociation of motor and sensory function below a certain altitudinal plane and/or bowel and bladder dysfunction

Disorders of the motor unit (anterior horn cells, peripheral nerve, neuromuscular junction, muscle) should be suspected in patients with weakness manifested by inability to climb stairs, raise the arms, grasp, stand, or walk

Whether and to what extent the child's cognition, behavior, and language are impacted and whether these symptoms represent developmental delay or regression.

Whether activities of daily living have been compromised.

Whether rehabilitative measures have been put in place and the specific types.

It is a common practice to inquire about activities a child cannot carry out or finds challenging. However, it is equally important to ask about activities that the patient can do and enjoy because these skills can be targeted for further development.

Medications — The clinician should note:

Current medications, nutritional supplements, and alternative therapies, including:

Indication

Form of the medication (capsule, tablet, suspension)

Strength in milligrams/grams

Route of administration

Frequency

Past medications and reason for discontinuation

Response to current and past medications

Allergy history — Allergies to medications and the nature of the allergic reaction should be recorded. This information may inform the choice of therapies.

Family history — Many childhood neurologic disorders are inherited. Thus, the clinician should inquire about the health status of all first-degree relatives (parents, siblings) and whether there is a family history of neurologic conditions, systemic disorders, or consanguinity. If other family members have neurologic disease, a pedigree chart is often helpful.

Social history — Housing status, including the age of the home and possible lead exposure, can be relevant to neurodevelopmental status.

Clinicians should also inquire about any safety or vulnerability concerns, including whether child and youth services have been involved for either the patient or other children in the home, especially if there are any concerns for nonaccidental trauma or neglect contributing to symptoms.

Pregnancy, perinatal, and neonatal history

Prenatal history – The prenatal history should include the following elements:

Mother's age at the time of pregnancy

History of mother's previous pregnancies (gravida, para, miscarriages, and gestational age at the time of miscarriages), including history of preterm labor or delivery and reason

Review of all maternal laboratory and other testing, if available, including fetal deoxyribonucleic acid (DNA) or any other genetic testing if done

Prenatal exposure to prescription and illicit drugs, alcohol, radiation, and infections and the fetus's gestational age at the time of exposure

Amount of maternal weight gain during the pregnancy; both inadequate and excessive weight gain increase the risk of pregnancy complications and adverse outcomes in the fetus (see "Gestational weight gain")

Exposure to systemic illnesses or infections that could affect the developing fetal brain (eg, cytomegalovirus, Zika virus, and other TORCH infections) (see "Overview of TORCH infections")

Whether fetal movements were reduced (as seen in infantile spinal muscular atrophy) or exaggerated (as seen in intrauterine seizures associated with pyridoxine dependency)

Results of prenatal head ultrasound studies

Labor and delivery – The labor and delivery history should include the following:

Gestational age at the time of onset of labor and whether labor was spontaneous, induced, or caesarean, and indication if induced or caesarean

Fetal presentation, length of the labor, and whether vacuum or forceps extraction was used

The infant's weight, length, and head circumference at birth

Apgar scores at 1, 5, and 10 minutes (see "Overview of the routine management of the healthy newborn infant", section on 'Apgar score')

Whether the infant needed resuscitation

Whether the infant required neonatal intensive care and, if so, for how long and whether there were any complications

Newborn period – Significant events in the first few weeks of life include the need for neonatal intensive care and, if so, whether the infant required ventilatory support, oxygen therapy, vasopressor therapy, resuscitation medications, exchange transfusion, or extracorporeal membrane oxygenation. In addition, it is important to inquire about seizures in the neonatal period and other signs of neonatal encephalopathy and/or use of therapeutic hypothermia. Poor feeding, impaired sucking and swallowing, and sleep-wake difficulties in the first month of life may be subtle markers of brain dysfunction. If cranial ultrasounds and/or other neuroimaging studies were performed during the neonatal period, the results should be reviewed. Results of newborn screening also should be reviewed. (See "Overview of newborn screening".)

Some of the factors listed above are risk factors for cerebral palsy, which is discussed in greater detail in a separate topic review. (See "Cerebral palsy: Epidemiology, etiology, and prevention".)

Developmental history — The clinician should record the child's age at acquisition of developmental milestones, such as social smiling, developing adequate head control, gurgling, reaching out for objects, rolling over, being able to maintain a sitting position, coming to a sitting position independently, crawling, walking independently, babbling, and using first words, phrases, and sentences (table 1) [3].

Some parents and caregivers are unable to recall the exact age at which these milestones were achieved. They may, however, have a good recollection of events surrounding the child's first birthday; thus, one can help jog their memory by asking about the child's abilities at that time, for instance, "Did this happen by the first birthday?" The examiner should be aware that in neurodegenerative disorders, a plateau in development may precede the start of developmental regression.

Early identification of children with autism spectrum disorders is accomplished through routine developmental surveillance at well-child visits, with additional developmental screening tests at specific visits or when developmental concerns are raised [4]. This is discussed separately. (See "Autism spectrum disorder in children and adolescents: Surveillance and screening in primary care".)

Review of other systems — The clinician should inquire about underlying medical conditions, some of which may have neurologic symptoms. If any disorder is present, the clinician should document the symptoms, treatment, and status of these disorders (ie, resolving, static, or deteriorating).

Many regions require comprehensive newborn screening. An inquiry into the results of the newborn screen is important. Although screening programs are designed for high sensitivity, false-negative results may occur, particularly in premature or medically complicated infants. Some forms of congenital hypothyroidism are not consistently captured by newborn screening, so testing should be repeated if there is a clinical suspicion for this disorder. (See "Overview of newborn screening" and "Clinical features and detection of congenital hypothyroidism", section on 'Newborn screening'.)

Infants and children with cerebral palsy often have a variety of problems attributable to their neurologic dysfunction, including dysphagia, gastroesophageal reflux, chronic constipation, respiratory difficulties, chronic aspiration into the tracheobronchial tree, sleep initiation and maintenance problems, impaired ambulation, scoliosis, deformities around joints of the extremities, and strabismus. In such children, the clinical history should include review of their current management. (See "Cerebral palsy: Classification and clinical features", section on 'Associated conditions'.)

NEUROLOGIC EXAMINATION

General concepts — The examination begins with observation of the child during the visit, even before starting the examination. This observation can provide insight into the spontaneous ability of the child and can guide prioritizing certain components of the examination if the child becomes less compliant with hands-on examination. When examining toddlers, the initial phase of inspection is best conducted while the child is seated in the parent's lap. This minimizes apprehension, which tends to alter the assessment of higher cortical functions, muscle tone, and tendon reflexes. It is also advisable to defer uncomfortable and anxiety-provoking procedures until the end of the session, such as otoscopy and checking of the gag reflex.

A collection of videos depicting elements of the neurologic examination in infants and children can be viewed on the Pediatric NeuroLogic Exam website [5].

Higher cortical functions — Observations of infants and toddlers during play (eg, while stacking blocks or playing with an age-appropriate toy) can provide valuable information about the patient's attention span, gross and fine motor coordination, and problem-solving abilities. It allows the clinician to evaluate the higher cortical functions, and it provides clues to specific learning difficulties, attention deficit hyperactivity disorder, and mild developmental delays (table 2). Joint attention, which requires eye contact with the parent or caretaker and making nonverbal or verbal affectual responses from the infant, develops by the age of nine months. The lack of development of joint attention may be an early clue to autism [6]. (See "Autism spectrum disorder in children and adolescents: Clinical features", section on 'Impaired social communication and interaction'.)

Cranial nerves — Each cranial nerve (CN) is tested by performance of a specific motor or sensory test. Testing in infants is often by observation for specific movements and responses and is less reliable. Multiple observation sessions may be helpful.

I (olfactory) — The sense of smell, mediated by CN I, can be tested by ability to detect alcohol or peppermint. This sense may be impaired after closed head injury and in infants with arhinencephaly-holoprosencephaly.

II (optic) — The function of CN II is assessed by the following tests of visual function:

Testing visual acuity – In an infant, visual acuity can be tested by observing the infant reach for objects of varying size. Infants older than six months of age will usually reach for scraps of paper less than 5 mm in size when they are placed on a dark background. Standard tests can be used in older children who can recognize objects, letters, or numbers. The narrow, alternating black and white stripes painted onto a rotating drum should elicit optokinetic nystagmus (OKN), with quick jerks of the eyes in a direction opposite to the movement of the drum or tape. (See "Vision screening and assessment in infants and children", section on 'Children three years and older'.)

Visual fields – Visual fields can be tested by introducing objects into the peripheral field of vision as the child focuses on an object held directly in front of them. The lateral and superior fields of vision can be assessed more easily than can the nasal fields. (See "The pediatric physical examination: HEENT", section on 'Vision'.)

Pupillary light response (direct and consensual) – A normal pupillary light reflex requires CN II for afferent impulses and III for efferent impulses. An asymmetric, constricted pupil in association with ptosis, enophthalmos, and anhidrosis is seen with ipsilateral Horner syndrome as a result of sympathetic denervation of the pupil. (See "Horner syndrome".)

Funduscopy – Funduscopy of children requires patience and is best accomplished in a dimly lit room with the patient gazing straight ahead. The parent or caretaker can be requested to keep a bright object in the hand, upon which the child is asked to focus. The ability of the clinician to obtain an adequate funduscopic examination is often compromised by lack of patient cooperation, nystagmus, or small pupils. In this case, consultation should be sought with an ophthalmologist.

A whitish opacity within the pupillary aperture is suspicious for a cataract. Etiologies may include an inherited tendency, congenital intrauterine infections, or metabolic disorders. Cataracts can obscure vision and require referral to an ophthalmologist.

The optic disc is normally pink in complexion (picture 1). Optic disc pallor may suggest atrophy (picture 2). (See "Congenital and acquired abnormalities of the optic nerve", section on 'Atrophy'.)

Hypoplasia of the optic disc (normal complexion but small size) may accompany septo-optic dysplasia, which can be associated with hypothalamic insufficiency and hypopituitarism. (See "Congenital and acquired abnormalities of the optic nerve", section on 'Hypoplasia'.)

Blurring of the optic disc margins along with loss of the optic disc cup and venous pulsations are seen in papilledema (picture 3). Approximately 30 percent of subjects lack venous pulsations even in the absence papilledema. (See "Congenital and acquired abnormalities of the optic nerve", section on 'Papilledema'.)

A "cherry red" macular spot (picture 4) is seen in lysosomal diseases, such as Tay-Sachs disease and Niemann-Pick disease. (See "Preconception and prenatal carrier screening for genetic disorders more common in people of Ashkenazi Jewish descent and others with a family history of these disorders", section on 'Tay-Sachs disease' and "Overview of Niemann-Pick disease".)

Chorioretinitis, which sometimes appears like "pepper sprinkled on a red table cloth," can accompany congenital cytomegalovirus infections. (See "Congenital cytomegalovirus infection: Clinical features and diagnosis".)

Flame-shaped retinal hemorrhages (picture 5) may accompany abusive head trauma (nonaccidental trauma). (See "Child abuse: Epidemiology, mechanisms, and types of abusive head trauma in infants and children", section on 'Retinal hemorrhages'.)

Retinal degeneration may accompany mitochondrial disorders such as the syndrome of neurologic muscle weakness, ataxia, and retinitis pigmentosa (NARP). (See "Mitochondrial myopathies: Clinical features and diagnosis", section on 'NARP'.)

III (oculomotor), IV (trochlear), and VI (abducens) — CN III, IV, and VI are required for extraocular movements in the horizontal, vertical, and oblique planes and can be tested by assessing the child's ability to track a brightly colored toy or soft light.

The corneal light reflex is a helpful test to determine eye alignment (strabismus or esotropia). When a light source is held directly in front of a patient who is staring straight ahead, normal eye alignment will reveal a symmetric reflex in the center of each pupil (figure 1).

Paralysis of extraocular muscles leads to eye deviation at rest [2] in the following patterns:

Deviation down and out – Paralysis of the inferior oblique muscle (CN III) (see "Third cranial nerve (oculomotor nerve) palsy in children")

Deviation laterally – Paralysis of the medial rectus (CN III)

Deviation upwards – Paralysis of the inferior rectus (CN III)

Deviation down and inwards – Paralysis of the superior rectus (CN III)

Deviation upwards and out – Paralysis of the superior oblique (CN IV) (see "Fourth cranial nerve (trochlear nerve) palsy")

Deviation inwards – Paralysis of the lateral rectus (CN VI) (see "Sixth cranial nerve (abducens nerve) palsy", section on 'Clinical manifestations')

Ptosis (drooping of the upper eyelid and encroachment on the pupillary aperture) may accompany sympathetic paralysis from lesions of the CN III, Horner syndrome, myopathies, myasthenia gravis, and eye structural lesions (eg, neurofibroma). (See "Overview of ptosis".)

OKN is a normal gaze-stabilizing response elicited by tracking a moving stimulus across the visual field and can be helpful as a crude assessment of the visual system. Assessment of OKN can be performed using an OKN drum or a piece of paper or cloth with alternating black (or red) and white stripes that is rapidly moved across the patient's visual field at reading distance. As the stimulus is moved from left to right, normally sighted patients will show quick, jerky movements to the left side and vice versa. Alternatively, a mirror placed in front of the patient's eyes can be tilted in different directions to elicit ocular pursuit movements. OKN is dependent upon the integrity of the visual system, especially visual perception, and pursuit and saccadic eye movement [7,8]. Bilateral absence of OKN in infancy or early childhood may suggest blindness, while unilateral absence may suggest a hemispheric lesion. Normal OKN in an individual with a complaint of vision loss suggests hysterical blindness. (See "Vision screening and assessment in infants and children" and "Approach to the pediatric patient with acute vision change", section on 'Conversion disorder'.)

Abnormal eye movements may be manifestations of an underlying disease or disorder:

Opsoclonus is characterized by sudden chaotic bursts of eye movements in the horizontal, vertical, oblique, or rotatory positions, often associated with myoclonus. It is a paraneoplastic manifestation of neuroblastoma and has also been described in other settings. (See "Clinical presentation, diagnosis, and staging evaluation of neuroblastoma", section on 'Opsoclonus myoclonus'.)

Upgaze paresis may accompany Parinaud syndrome owing to pressure on the pretectal region from a mass lesion. Impaired downgaze may be seen in children with Niemann-Pick type C disease and can lead to difficulty going down steps. (See "Ocular gaze disorders" and "Overview of Niemann-Pick disease".)

Oculomotor apraxia is characterized by a delayed initiation of the eye movement and jerky pursuit movements that are accompanied by compensatory head thrusting. It may accompany Joubert syndrome or ataxia with oculomotor apraxia syndrome. (See "Clinical manifestations, diagnosis, and treatment of nephronophthisis", section on 'Joubert syndrome' and "Overview of chorea", section on 'Ataxia with oculomotor apraxia'.)

V (trigeminal) — The sensory function of CN V can be tested by the response to light touch over the face (use a tissue) and by sensation on the cornea and conjunctiva (see 'Superficial reflexes' below).

Motor function of CN V is tested by assessing masseter muscle strength (asking the child to clench their jaw while palpating for muscle contraction).

VII (facial) — The function of CN VII can be assessed by observing for symmetry of the nasolabial folds, assessing eyelid muscle strength, and assessing the ability to wrinkle the forehead symmetrically. In addition, CN VII mediates taste sensation over the anterior two-thirds of the tongue and can be tested by applying two or three drops of a concentrated salt solution to the lateral edge of each one-half of the tongue using a cotton applicator, while the tongue is kept protruded.

With nuclear and infranuclear lesions of CN VII, both the upper and lower one-halves of the face are paralyzed, whereas with supranuclear lesions, only the lower one-half of the face is affected. (See "Facial nerve palsy in children".)

VIII (vestibulocochlear) — In infants, hearing is tested by making a soft sound close to one ear, such as from rustling of paper. The infant should show an alerting response. By the age of five to six months, the infant may also be able to localize the sound to a specific quadrant. The procedure is then repeated for the opposite ear. In cooperative school-age children, speech discrimination can be tested by softly whispering a number approximately one foot from the ear. The traditional Rinne and Weber tests can be used as well in older children. (See "Hearing loss in children: Screening and evaluation", section on 'Simple hearing tests'.)

Poor head control, truncal unsteadiness, gait ataxia, nausea, vomiting, and horizontal nystagmus may indicate vestibular system dysfunction.

IX (glossopharyngeal) and X (vagus) — CN IX and CN X are responsible for swallowing function and movement of the soft palate and are often tested by eliciting a gag reflex. Salivary drooling or pooling of saliva also suggest dysfunction. Hoarseness of the voice can be caused by CN X dysfunction.

XI (spinal accessory) — CN XI mediates motor function in the trapezius or sternomastoids; its function is usually assessed by elevation of the shoulders and turning of the neck against resistance. The pattern of weakness caused by CN IX dysfunction depends on whether the lesion is peripheral or central.

XII (hypoglossal) — Function of CN XII in a child or adolescent is tested by asking the patient to stick out their tongue; normally, the tongue should remain in the midline. In patients with peripheral lesions of CN XII, the tongue points towards the paretic side. CN XII dysfunction can also cause fasciculations (slow, ripple-like movements) in the tongue and oromotor apraxia. Fasciculations are best observed with the mouth open and with the tongue kept immobile within the mouth.

Motor system

Posture and involuntary movements — Abnormalities are suggested by the following observations:

Asymmetry at rest in infants (may suggest hemiparesis). (See "Cerebral palsy: Classification and clinical features", section on 'Spastic hemiplegia'.)

Opisthotonus (ie, persistent arching of the neck and trunk due to bilateral cerebral cortical dysfunction). (See "Neurologic examination of the newborn", section on 'Hypertonia'.)

Abducted hips or "frog-legged" posture that accompanies hypotonia. (See "Neurologic examination of the newborn", section on 'Hypotonia'.)

Fisting of the hand or holding the thumb adducted across the palm during quiet wakefulness (suggests corticospinal tract involvement). However, closure of the hand during sleep is normal.

Tremor (rhythmic, fine-amplitude flexion-extension movements of the distal extremity).

Myoclonus (quick, nonstereotyped jerks around a segment of the body). (See "Hyperkinetic movement disorders in children", section on 'Myoclonus'.)

Athetosis (slow, sinuous movement of the distal extremity with pronation of the distal extremity, generally due to a contralateral putaminal lesion). (See "Hyperkinetic movement disorders in children", section on 'Chorea, athetosis, and ballismus'.)

Chorea (rapid, quasi-purposive, nonstereotyped movements of a segment of the body that is generally proximal). (See "Hyperkinetic movement disorders in children", section on 'Chorea, athetosis, and ballismus'.)

Tics (highly stereotyped and repetitive movements). (See "Nonepileptic paroxysmal disorders in children", section on 'Tics and stereotypies'.)

Muscle atrophy, pseudohypertrophy (bulky appearance of muscles due to fat accumulation, with associated muscle fiber atrophy and weakness) is commonly seen in muscular dystrophies such as Duchenne. Fasciculations (ripple-like movements of the muscles that accompany degeneration of anterior horn cells) are commonly seen in motor neuron diseases. (See "Duchenne and Becker muscular dystrophy: Clinical features and diagnosis" and "Etiology and evaluation of the child with weakness", section on 'Muscle examination'.)

Stereotyped hand-wringing movements and bruxism (teeth grinding) may be seen in Rett syndrome.

Stereotypies are repetitive movements and/or sounds. These may include simple movements, such as body-rocking or head-nodding, or more complex movements, such as hand-flapping or pacing; these may be more common in children with autism spectrum disorder. (See "Autism spectrum disorder in children and adolescents: Surveillance and screening in primary care".)

Tone and strength — Muscle tone is the resistance felt upon passive movement of a part of the body. In the extremities, it is assessed by placing a joint through its full range of movement. Hypotonia is characterized by decreased resistance to passive movement and hyperextension at the joints. Increased tone that is spastic in nature (abnormal lengthening-shortening reaction to stretch that has the feel of a "clasp knife") tends to accompany pyramidal tract lesions. Increased tone that is characterized by muscle rigidity (has a "lead pipe" or "cog wheel" feel during the range of motion) suggests extrapyramidal lesions. Paratonia (also known as gegenhalten) is a form of hypertonia that is characterized by the involuntary resistance to passive movement. Although it is more often elicited in older adults with dementia, it also can occur in children with developmental disabilities, dyspraxia, and learning disabilities and may be incorrectly attributed to the child not complying with the examination.

Weakness is elicited by asking the patient to move a part of the body against resistance (gravity or gravity plus resistance imposed by the examiner). The degree of weakness is graded in a five-point scale:

Grade 0/5 – No muscle movement at all

Grade 1/5 – Presence of a flicker of movement

Grade 2/5 – Movement with gravity eliminated (eg, across the bedsheet)

Grade 3/5 – Movement against gravity

Grade 4/5 – Movement against gravity and some externally applied resistance

Grade 5/5 – Movement against gravity and good external resistance (normal)

Distal weakness (symmetric or asymmetric) generally accompanies peripheral neuropathy, while proximal muscle weakness (generally symmetric) is seen in myopathies. Hereditary neuropathies such as Charcot-Marie-Tooth disease are associated with prominent, high arches in the feet due to atrophy of the plantar muscles. (See "Charcot-Marie-Tooth disease: Genetics, clinical features, and diagnosis".)

Patients with proximal (hip extensor) muscle weakness may exhibit a Gower's sign (ie, they will prop their hands against the floor or their legs for support when getting up from a sitting position on the floor).

Assessment for the pronator drift is a useful method of detecting upper motor neuron weakness [9]. Initially, the child is asked to extend the upper extremities with palms down. The child is then asked to close the eyes and rotate the extended arms so that the palms are facing upwards. During this turning maneuver with the eyes closed, a patient with upper motor neuron weakness may pull the elbow down and in. If in the response there is an upward and outward drift, a contralateral parietal lesion or a cerebellar process could be responsible.

Coordination — Patients with cerebellar dysfunction have difficulty in regulating the rate and range of muscle contraction (known as dysmetria), which may manifest as nystagmus, intention tremor, scanning speech, truncal or gait ataxia, or rebound phenomenon. To test for rebound phenomenon, the patient flexes the arm against resistance offered by the examiner, then the examiner abruptly releases the resistance. In rebound phenomenon, the patient is unable to stop the muscle contraction.

Dysmetria can be assessed with the finger-to-nose test: When seated with the elbows fully extended and the arms in a horizontal plane, the patient is asked to touch the index finger to the nose and then return to the starting position. In a young child, use of a toy to reach for may be a helpful surrogate. Cerebellar deficits will impair performance on this test.

Sensory system — A sensory examination in young children is often imprecise, and only gross deficits can be detected. Information obtained from sensory testing in a child below five to six years of age can be unreliable and may need confirmation during a second examination session.

In children older than five to six years, sensory function is evaluated in the same manner as in an adult, as discussed in a separate topic review. (See "The detailed neurologic examination in adults".)

Tendon reflexes — The jaw, biceps, triceps, brachioradialis, patellar, and ankle are commonly tested tendon reflexes, and all of these can usually be tested in infants and children. The joint under consideration should be at approximately 90° and fully relaxed. In patients with cerebral palsy, exhortations to "relax" may paradoxically increase contraction of the muscles and should thus be avoided. Instead, the patient should be put at ease during reflex testing with conversation.

To elicit the reflex, let the head of the reflex hammer drop onto the tendon at the following locations:

Jaw – With the mouth held partially open and examiner's finger placed over the chin, the finger is lightly tapped with a reflex hammer to displace the mandible downwards. This elicits contraction of the mandible and slight closure of the mouth.

Biceps – Just anterior to the elbow.

Triceps – Just posterior to the elbow.

Brachioradialis – Just above the wrist, on the radial aspect of the forearm.

Knee (patellar) – Just below the patella.

Ankle (Achilles) – Just behind the ankle.

The elicitation of tendon reflexes provides information about multiple aspects of the nervous system. Findings can be interpreted as follows:

Absent or diminished tendon reflexes – This generally indicates interruption of the muscle stretch reflex arc at the level. Since the afferent impulses generated after tapping a tendon with reflex hammer are carried via large-diameter fibers, the absence of a tendon reflex could also signify involvement of large-diameter sensory fibers in a peripheral nerve.

Exaggerated tendon reflexes – This generally indicates disinhibition of the motor units, owing to a pyramidal tract lesion. When the patellar reflex (knee jerk) is elicited, an exaggerated (ie, abnormal) response includes spread to the opposite side in the form of a crossed adductor response (contraction of the contralateral hip muscle) or ipsilateral contraction of the plantar, flexures of the foot. Similarly, clonus (rhythmic muscle contractions elicited by the stimulus) is exaggerated and abnormal.

Asymmetric tendon reflexes – This may indicate a cerebral hemispheric lesion. Asymmetry is most easily detected with a gentle stimulus.

Differences between tendon reflexes in the upper and lower body – This may suggest a spinal cord lesion. As an example, the jaw jerk is the only tendon reflex that is mediated above the plane of the foramen magnum; thus, if the jaw jerk is of normal amplitude but the biceps and other tendon reflexes are exaggerated, this might be a clue to a craniovertebral junction lesion.

Developmental reflexes — Developmental reflexes (also known as primitive reflexes) appear at a certain time during the course of brain development and normally disappear with progressive maturation of cortical inhibitory functions. They are mediated at subcortical levels. Assessment of developmental reflexes is important in the newborn period and during infancy [10,11]. Developmental reflexes are abnormal if:

They are absent at an age when they should normally be present

They are asymmetric, suggesting unilateral weakness

They persist beyond a time they should have normally resolved, as this suggests impaired maturation of descending cortical inhibitory projections

Common developmental reflexes, their descriptions, and time of appearance and resolution are listed in the following table (table 3). (See "Neurologic examination of the newborn", section on 'Developmental reflexes'.)

The persistence of primitive reflexes such as the asymmetric tonic neck reflex and Galant reflex after age five months is an early clue to the development of cerebral palsy [10]. (See "Cerebral palsy: Classification and clinical features", section on 'Early signs of cerebral palsy'.)

Superficial reflexes — Superficial reflexes can be elicited by light stimulation of the plantar, conjunctival, abdominal, and cremaster areas.

The plantar reflex (S1) is elicited by stroking the plantar surface of the foot using a pointed but not sharp object (eg, the metal end of a reflex hammer). The stroke is from a lateral to medial direction, posterior to anterior, stopping short at the base of the great toes. The normal response is one flexion of all toes. Patients with corticospinal tract lesions manifest an extensor plantar response (Babinski sign), which is characterized by extension of the great toe and fanning of other toes.

For the conjunctival reflex, gently touching a wisp of cotton or tissue to the surface of the conjunctiva will elicit an eye blink. The afferent loop of the reflex is via CN V, while the efferent loop is through the facial (VII) nerve. (See 'III (oculomotor), IV (trochlear), and VI (abducens)' above.)

The superficial abdominal reflexes are elicited in the right and left upper abdominal quadrants (T8, 9) and also in the left and right lower abdominal quadrants (T11, 12). Stroking of a blunt metal object (eg, the metal end of a reflex hammer) in these quadrants in a medial to lateral direction elicits contraction of the abdominal muscles. Abdominal reflexes may be lost in the case of a pyramidal tract lesion.

The cremasteric reflex (L1-2) is elicited by stroking the medial aspect of the upper thigh, which elicits contraction of the cremaster muscle and elevation of the testis.

Gait — The gait is best assessed by observing the patient walk barefooted down a long corridor with the legs and feet exposed. Abnormalities can be brought out by having the patient walk and run.

Circumduction of a lower extremity may indicate spasticity and is commonly observed in hemiparesis

A broad-based, ataxic gait may accompany a cerebellar disorder

A high-steppage gait suggests peripheral neuropathy

Patients with dystonia frequently show normal posture of the feet at rest but turn their feet inwards and walk on the outer edges of the feet

Myopathies, such as Duchenne muscular dystrophy, may be associated with a waddling gait

Spine — The spine should be examined along its entire length for findings that might suggest an underlying congenital spinal cord anomaly, such as tethered cord syndrome or spina bifida occulta (eg, a midline tuft of hair, dermal sinus tract, or lipoma). Gross lesions (eg, meningocele and myelomeningocele) will of course be readily visualized. (See "Myelomeningocele (spina bifida): Anatomy, clinical manifestations, and complications".)

Patients with muscular dystrophy may display lumbar lordosis. Kyphoscoliosis may accompany degenerative disorders, such as Friedreich ataxia and muscular dystrophies. Localized point tenderness over the spine may suggest underlying intervertebral disc herniation, inflammation, fracture, or neoplastic process. The range of motion of the spine should be evaluated at all levels when indicated.

Head — Examination includes measurement of head circumference and assessment of the fontanels and cranial sutures:

Head circumference – The growth in size of the head is an indirect marker for increase in the size of the brain. The occipitofrontal head circumference (OFC) is measured by placing the measuring tape across from just above the eyebrows to the external occipital protuberance (picture 6). The head circumference is compared with the standard measurements for a given age. Serial head circumference measurements are more reliable than a single recording. (See "Microcephaly in infants and children: Etiology and evaluation", section on 'Monitoring head growth'.)

Macrocephaly is defined as OFC >2 standard deviations (SD) above the mean for age, sex, and gestation (ie, OFC ≥97th percentile). (See "Macrocephaly in infants and children: Etiology and evaluation", section on 'Etiology'.)

Microcephaly is usually defined as OFC ≥2 SD below the mean for age, sex, and gestation (ie, OFC <3rd percentile), although some individuals with OFC in this range have no clinical abnormality. Severe microcephaly is defined as OFC ≥5 SD below the mean for age, sex, and gestation. (See "Microcephaly in infants and children: Etiology and evaluation", section on 'Microcephaly'.)

Fontanels – The anterior fontanel is felt for bulging (raised intracranial pressure) or depression (dehydration). For consistency, serial evaluations of the fontanel should always be performed in the same position (eg, while supporting the infant who is not crying in the semiupright position). (See "The pediatric physical examination: HEENT", section on 'Anterior and posterior fontanelles'.)

Sutures – The sagittal and coronal sutures are palpated for ridging (craniosynostosis) or separation (raised intracranial pressure). Patients with raised intracranial pressure may show frontal bossing, palpable separation of sutures, tense or bulging anterior fontanel, and prominent veins over the scalp. Premature closure of the sagittal suture may confer an elongated appearance of the skull in the anteroposterior plane with side-to-side flattening (dolichocephaly). Premature closure of the coronal suture may lead to brachycephaly, with shortening of the skull in the anteroposterior plane. Plagiocephaly or asymmetric flattening of the skull occurs when there is premature closure of one of the lambdoidal sutures. (See "Overview of craniosynostosis".)

ELEMENTS OF THE GENERAL PHYSICAL EXAMINATION RELEVANT TO CHILD NEUROLOGY — Clues to the diagnosis of many childhood neurologic disorders can be obtained during a careful general physical examination. Additional detail on these disorders is available through the topic reviews linked below and/or in the open-access databases Online Mendelian Inheritance in Man or the National Center for Biotechnology Information GeneReviews.

Dysmorphic features — The presence of an isolated unusual morphologic feature is common (noted in approximately 15 percent of newborns in one series) and is not generally associated with underlying abnormalities [12]. However, the presence of two or more unusual morphologic features is much less common (0.8 percent of newborns) and is associated with an increased likelihood of having a clinically important underlying anomaly.

The following list of dysmorphic features is by no means complete, and the reader is referred to more comprehensive reviews on dysmorphology [13].

Hypotelorism may accompany the holoprosencephaly sequence and trisomy 13. (See "Overview of craniofacial clefts and holoprosencephaly" and "Congenital cytogenetic abnormalities", section on 'Trisomy 13 syndrome'.)

Hypertelorism is associated with the following:

Cleft palate (see "Syndromes with craniofacial abnormalities")

Sotos syndrome (cerebral gigantism) (see "Microdeletion syndromes (chromosomes 1 to 11)", section on '5q35 deletion syndrome (Sotos syndrome)')

Apert syndrome (see "Craniosynostosis syndromes", section on 'Apert syndrome')

Saethre-Chotzen syndrome (see "Craniosynostosis syndromes", section on 'Saethre-Chotzen syndrome')

Coffin-Lowry syndrome

Aarskog syndrome

Inner epicanthal folds are associated with the following:

Down syndrome (see "Down syndrome: Clinical features and diagnosis")

Rubinstein-Taybi syndrome (see "Microdeletion syndromes (chromosomes 12 to 22)", section on '16p13.3 deletion syndrome (Rubinstein-Taybi syndrome)')

Smith-Lemli-Opitz syndrome

Zellweger syndrome (see "Peroxisomal disorders", section on 'Zellweger spectrum disorders')

Slanted palpebral fissures are associated with the following:

Down syndrome (see "Down syndrome: Clinical features and diagnosis")

Apert syndrome (see "Craniosynostosis syndromes", section on 'Apert syndrome')

DiGeorge (22q11.2 deletion) syndrome (see "DiGeorge (22q11.2 deletion) syndrome: Clinical features and diagnosis")

Miller-Dieker syndrome (see "Microdeletion syndromes (chromosomes 12 to 22)", section on '17p13.3 deletion including PAFAH1B1 (Miller-Dieker syndrome)')

Rhizomelic chondrodysplasia punctata (see "Peroxisomal disorders", section on 'RCDP spectrum disorders')

Aarskog syndrome

Prominent, full lips are common in Williams syndrome. (See "Microdeletion syndromes (chromosomes 1 to 11)", section on '7q11.23 deletion syndrome (Williams syndrome)'.)

Low-set ears are associated with the following:

Noonan syndrome (see "Noonan syndrome")

Treacher Collins syndrome (see "Syndromes with craniofacial abnormalities", section on 'Treacher Collins syndrome')

Miller-Dieker syndrome (see "Microdeletion syndromes (chromosomes 12 to 22)", section on '17p13.3 deletion including PAFAH1B1 (Miller-Dieker syndrome)')

Rubinstein-Taybi syndrome (see "Microdeletion syndromes (chromosomes 12 to 22)", section on '16p13.3 deletion syndrome (Rubinstein-Taybi syndrome)')

Smith-Lemli-Opitz syndrome

Pena-Shokeir syndrome

Trisomy 9 (see "Congenital cytogenetic abnormalities", section on 'Trisomy 9 syndrome')

Trisomy 18 (see "Congenital cytogenetic abnormalities", section on 'Trisomy 18 syndrome')

A single midline incisor in the maxilla may be associated with holoprosencephaly. (See "Overview of craniofacial clefts and holoprosencephaly".)

Skin examination — Skin findings associated with neurologic disease include the following:

Tuberous sclerosis may be associated with hypopigmented patches, angiofibromas over the cheek (adenoma sebaceum), shagreen patches over the lumbar region (raised skin lesions with an irregular surface), and a brown fibrous plaque on the forehead. (See "Tuberous sclerosis complex: Clinical features", section on 'Dermatologic manifestations'.)

Neurofibromatosis type 1 is associated with six or more café-au-lait spots (>5 mm in a prepubertal child and >15 mm in a postpubertal child), neurofibromas (soft, sessile nodules), and axillary or inguinal freckles. (See "Neurofibromatosis type 1 (NF1): Pathogenesis, clinical features, and diagnosis", section on 'Clinical manifestations'.)

A port wine birthmark over one-half of the face is characteristic of Sturge-Weber syndrome. The lesion invariably involves the ophthalmic region of distribution of the trigeminal nerve. Many patients have an associated intracranial (leptomeningeal) angioma, with hemiplegia and focal epilepsy. (See "Sturge-Weber syndrome".)

Petechial hemorrhages, which confer a "blueberry muffin" appearance to the skin, may be seen in neonates with congenital cytomegalovirus infections. (See "Congenital cytomegalovirus infection: Clinical features and diagnosis", section on 'Clinical manifestations'.)

A macular rash (located over the malar region of the face) is characteristic of systemic lupus erythematosus, whereas drug hypersensitivity reactions tend to have a rash with a generalized distribution. (See "Childhood-onset systemic lupus erythematosus (SLE): Clinical manifestations and diagnosis".)

Erythema migrans is a reddish, target-shaped lesion that is characteristic of Lyme disease. (See "Lyme disease: Clinical manifestations in children", section on 'Erythema migrans'.)

Vitiligo may be associated with autoimmune disturbances such as myasthenia gravis. (See "Vitiligo: Pathogenesis, clinical features, and diagnosis", section on 'Autoimmune diseases'.)

Lax or redundant skin may accompany Coffin-Lowry, Costello, and Ehlers-Danlos syndromes. (See "Rhabdomyosarcoma in childhood and adolescence: Epidemiology, pathology, and molecular pathogenesis", section on 'Inherited syndromes' and "Clinical manifestations and diagnosis of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder".)

Angiokeratomas, which are collections of small, reddish bumps, are seen in Fabry disease, which is a lysosomal disease due to absence of alpha galactosidase A. (See "Fabry disease: Clinical features and diagnosis".)

External genitalia

Hypogonadism with small testicles or undescended testicles and small penile size is common in Prader-Willi syndrome (obesity, hypogonadism, hyperphagia, and intellectual disability). (See "Prader-Willi syndrome: Management".)

Ambiguous genitalia may accompany X-linked lissencephaly and the syndrome of infantile spasms in association with hydranencephaly/lissencephaly and agenesis of the corpus callosum due to mutations in the aristaless-related homeobox (ARX) gene. (See "Infantile epileptic spasms syndrome: Etiology and pathogenesis".)

Macro-orchidism is common in fragile X syndrome. (See "Fragile X syndrome: Clinical features and diagnosis in children and adolescents".)

Patients with X-linked adrenoleukodystrophy may manifest hyperpigmentation initially over the external genitalia. (See "Clinical features, evaluation, and diagnosis of X-linked adrenoleukodystrophy".)

Lymphadenopathy — Subacute and chronic inflammatory or neoplastic disorders (eg, toxoplasmosis, tuberculosis, infectious mononucleosis, and lymphoma) may be associated with enlargement of lymph nodes over multiple regions of the body. In some of these disorders, there may be nonspecific neurologic symptoms such as lethargy or confusion.

Hepatosplenomegaly — Enlargement of the spleen and liver may be seen with the aforementioned infectious disorders. Lysosomal diseases, such as mucopolysaccharidoses and generalized GM1 gangliosidosis, and Niemann-Pick disease can also lead to hepatosplenomegaly. (See "Mucopolysaccharidoses: Clinical features and diagnosis" and "Inborn errors of metabolism: Classification", section on 'Lysosomal storage disorders' and "Overview of Niemann-Pick disease".)

Abnormal hair — The following disorders have both neurologic manifestations and abnormalities of hair. Such associations are reviewed elsewhere in more detail [14].

Brittle hair is common in argininosuccinic aciduria. (See "Urea cycle disorders: Clinical features and diagnosis".)

The hair in Menkes disease is brittle, sparse, and tortuous. A simple clue to the diagnosis is examining hair under low power of a light microscope. (See "Overview of dietary trace elements", section on 'Menkes disease'.)

Alopecia is common in rhizomelic chondrodysplasia punctata and in Rubinstein-Taybi syndrome. (See "Microdeletion syndromes (chromosomes 12 to 22)", section on '16p13.3 deletion syndrome (Rubinstein-Taybi syndrome)' and "Peroxisomal disorders", section on 'RCDP spectrum disorders'.)

Hirsutism and synophrys (joined eyebrows) are common in Cornelia de Lange syndrome. (See "Congenital anomalies: Epidemiology, types, and patterns", section on 'Syndrome'.)

A white forelock of hair may accompany the Waardenburg syndrome (heterochromia of the iris, bright blue eyes, broad and prominent nasal root, midface hypoplasia, and congenital sensorineural deafness). (See "The genodermatoses: An overview", section on 'Waardenburg syndrome'.)

Abnormal breath — The area from which abnormal smells are most easily detected is the nape of the neck or the scalp. Infants with phenylketonuria may manifest a mousy odor. Those with isovaleric aciduria may have an odor of sweaty feet. (See "Inborn errors of metabolism: Epidemiology, pathogenesis, and clinical features", section on 'Abnormal odors'.)

Cardiovascular

High-output cardiac failure is common in newborns and infants having vein of Galen malformations. (See "Hydrocephalus in children: Physiology, pathogenesis, and etiology", section on 'CNS malformations'.)

A floppy and weak infant with cardiomegaly and poor cardiac contractility may have Pompe disease (acid maltase deficiency or type II glycogen storage disease). (See "Lysosomal acid alpha-glucosidase deficiency (Pompe disease, glycogen storage disease II, acid maltase deficiency)".)

Duchenne and Becker muscular dystrophies are associated with cardiomyopathy. (See "Duchenne and Becker muscular dystrophy: Clinical features and diagnosis".)

Patients with Friedreich ataxia frequently manifest hypertrophic subaortic cardiomyopathy as well as progressive ataxia and diabetes mellitus. (See "Friedreich ataxia".)

Patients with Barth syndrome have congenital dilated cardiomyopathy as well as skeletal myopathy and neutropenia. (See "Inherited syndromes associated with cardiac disease", section on 'Barth syndrome'.)

Otolaryngology — Macroglossia is often noted when the tongue protrudes from between the teeth. Macroglossia is a characteristic of Beckwith-Wiedemann syndrome and some forms of mucopolysaccharidosis (eg, Hurler syndrome) and can also be seen in some patients with untreated hypothyroidism. Patients with macroglossia often have obstructive sleep apnea. (See "Beckwith-Wiedemann syndrome" and "Mucopolysaccharidoses: Clinical features and diagnosis", section on 'Hurler syndrome'.)

DEVELOPMENTAL SCREENING TESTS — Developmental screening tests complement the history and neurologic examination, can be conducted in the field by trained health professionals, and may facilitate early diagnosis of a childhood neurologic disability and appropriate intervention. There are several brief and accurate developmental screening tests that make use of information provided by the parents or caregivers or by direct observation or elicitation of developmental skills. (See "Developmental-behavioral surveillance and screening in primary care", section on 'Approach to screening'.)

SUMMARY

History – In infants and children, the history should include information about prenatal exposures and symptoms and assessment of developmental milestones (table 1). (See 'Pregnancy, perinatal, and neonatal history' above and 'Developmental history' above.)

Observation – Observations of infants and toddlers during play (eg, while stacking blocks or playing with an age-appropriate toy) can provide valuable information about the patient's attention span, joint attention, babbling, speech, gross and fine motor coordination, and problem-solving abilities. These higher cortical functions are also assessed with a series of questions appropriate to the child's age (table 2). (See 'Higher cortical functions' above.)

Cranial nerves – Each cranial nerve (CN) is tested by performance of a specific motor or sensory test. Testing in infants is often by observation for specific movements and responses and is less reliable. (See 'Cranial nerves' above.)

Motor examination – The patient should be observed for abnormalities of posture and movements, including asymmetry at rest, fisting of the hand, frog-legged position suggesting hypotonia, tremor, myoclonus, or tics. (See 'Posture and involuntary movements' above.)

Muscle tone is the resistance felt upon passive movement of a joint through its range of motion. Hypotonia is characterized by decreased resistance to passive movement and hyperextension at the joints. Hypertonia can be either spastic in nature or characterized by muscle rigidity. (See 'Tone and strength' above.)

Sensory examination – A sensory examination in young children is often imprecise, and only gross deficits can be detected. In children older than five to six years, sensory function is evaluated in the same manner as in an adult. (See 'Sensory system' above and "The detailed neurologic examination in adults".)

Developmental reflexes – Developmental reflexes (also known as primitive reflexes) appear at a certain time during the course of brain development and normally disappear with progressive maturation of cortical inhibitory functions (table 3). Persistence of primitive reflexes beyond the time by which they should have disappeared may be an early clue to cerebral palsy. (See 'Developmental reflexes' above and "Cerebral palsy: Classification and clinical features", section on 'Early signs of cerebral palsy'.)

General physical examination findings – Certain elements of the general physical examination may provide clues to the diagnosis of childhood neurologic disorders. Important features include facial dysmorphism; abnormalities of skin pigmentation, color and texture of hair, and breath odor; hepatosplenomegaly; and evidence of cardiac disease. (See 'Elements of the general physical examination relevant to child neurology' above.)

  1. Swaiman KF. Neurologic examination of the older child. In: Neurology. Principles and Practice, 4th ed, Swaiman KF, Ashwal S, Ferriero DM (Eds), Mosby Elsevier, 2006. p.17.
  2. Caramant L, Diadori P. The neurologic examination. In: Current Management in Child Neurology, 2nd ed, Maria BL (Ed), BC Dekker, Inc, 2002. p.28.
  3. Glascoe FP, Marks KP. Screening for developmental and behavioral problems. In: Neurodevelopmental Disabilities: Clinical and Scientific Foundations, Shevell M (Ed), MacKeith Press for the International Child Neurology Association, 2009. p.85.
  4. Johnson CP, Myers SM, American Academy of Pediatrics Council on Children With Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics 2007; 120:1183.
  5. Larsen PD and Stensaas SS. Pediatric NeuroLogic Examination videos and descriptions, 2009. Available at: http://library.med.utah.edu/pedineurologicexam/html/home_exam.html (Accessed on March 22, 2012).
  6. Clifford SM, Dissanayake C. The early development of joint attention in infants with autistic disorder using home video observations and parental interview. J Autism Dev Disord 2008; 38:791.
  7. Papanagnu E, Brodsky MC. Is there a role for optokinetic nystagmus testing in contemporary orthoptic practice? Old tricks and new perspectives. Am Orthopt J 2014; 64:1.
  8. Brodsky MC. Pediatric Neuro-Ophthalmology, 2nd ed, Springer, 2010.
  9. Kutscher ML. How to think like a neurologist -- Part 1: Pearls of the neurological examination. Emergency and Office Pediatrics 1998; 11:101.
  10. Zafeiriou DI. Primitive reflexes and postural reactions in the neurodevelopmental examination. Pediatr Neurol 2004; 31:1.
  11. Schott JM, Rossor MN. The grasp and other primitive reflexes. J Neurol Neurosurg Psychiatry 2003; 74:558.
  12. MARDEN PM, SMITH DW, MCDONALD MJ. CONGENITAL ANOMALIES IN THE NEWBORN INFANT, INCLUDING MINOR VARIATIONS. A STUDY OF 4,412 BABIES BY SURFACE EXAMINATION FOR ANOMALIES AND BUCCAL SMEAR FOR SEX CHROMATIN. J Pediatr 1964; 64:357.
  13. Jones KL. Smith's Recognizable Patterns of Human Malformations, Jones KL (Ed), WB Saunders, 1988. p.662.
  14. Michelson DJ, Shu SK. Cognitive and motor regression. In: Pediatric Neurology: Principles and Practice, 4th ed, Swaiman KF, Ashwal S, Ferriero DM (Eds), Mosby Elsevier, 2006. p.821.
Topic 15360 Version 29.0

References

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