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motor cortices are only beginning to be myelinated and their contribution to the totality of neonatal behavior cannot be very great Neurologic examination, to be informative, must therefore be directed to evaluating diencephalic-midbrain, cerebellar lower brainstem, and spinal functions The integrity of these functions in the neonate is most reliably assessed by noting the following, again as described in Chap 28: 1 Control of respiration and body temperature; regulation of thirst, uid balance, and appetite-hypothalamus-brainstem mechanisms Certain elemental automatisms, such as sucking, rooting, swallowing, grasping brainstem-cerebellar mechanisms Movements and postures of the neck, trunk, and limbs, such as reactions of support, extension of the neck and trunk, exion movements and steppage lower brainstem (reticulospinal), cerebellar, and spinal mechanisms Muscle tone of limbs and trunk spinal neuronal and neuromuscular function Re ex eye movements tegmental midbrain and pontine mechanisms (a modi ed optokinetic nystagmus can be recognized by the third day of life) The state of alertness and attention (stimulus responsivity and capacity of the examiner to make contact) as well as sleep-waking and electroencephalographic patterns mesencephalic-diencephalic mechanisms Certain re exive reactions such as the startle (Moro) response and placing reactions of the foot and hand upper brainstem spinal mechanisms with possible cortical facilitation

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FIGURE 10-3

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Derangements of these functions are manifest as impairments of alertness and arousal, hypotonia, disturbances of ocular movement (oscillations of the eyes, nystagmus, loss of tonic conjugate deviation of the eyes in response to vestibular stimulation, ie, to rotation of the upright infant), failure to feed, tremors, clonic jerkings, tonic spasms, opisthotonos, diminution or absence of limb movements, irregular or chaotic breathing, hypothermia or poikilothermia, bradycardia, circulatory dif culties, poor color, and seizures In most instances of neonatal metabolic disease, the pregnancy and delivery proceed without mishap Birth at full term is usual The infant is of a size and weight expected for the duration of pregnancy, and there are no signs of a developmental abnormality (in a few instances the infant is somewhat small, and in GM1 gangliosidosis there may be a pseudo-Hurler appearance; see further on) Furthermore, function continues to be normal in the rst few days of life The rst hint of trouble may be the occurrence of feeding dif culties: food intolerance, diarrhea, and vomiting The infant becomes fretful and fails to gain weight and thrive all of which should suggest a disorder of amino acid, ammonia, or organic acid metabolism The rst de nite indication of disordered nervous system function is likely to be the occurrence of seizures These usually take the form of unpatterned clonic or tonic contractions of one side of the body or independent bilateral contractions, sudden arrest of respiration, turning of the head and eyes to one side, or twitching of the hands and face Some of the ill-formed seizures may become generalized They occur singly or in clusters, and in the latter instance are associated with unresponsiveness, immobility, and arrest of respiration

FIGURE 2-3

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The other clinical abnormalities in the motor realm, according to authorities such as Prechtl and Beintema, can be subdivided roughly into three groups, each of which constitutes a kind of syndrome: (1) hyperkinetic-hypertonic, (2) apathetic-hypotonic, or (3) unilateral or hemisyndromic Prechtl and Beintema, from a study of more than 1500 newborns, found that if clinical examination consistently discloses any one of the three syndromes, the chances are two out of three that by the seventh year the child will be manifestly abnormal neurologically They found also that certain neurologic signs such as facial palsy, lack of grasping, excessive oppiness, and impairment of sucking while sometimes indicative of serious disease of the nervous system, are less dependable; also, being rare, these signs will identify but few brain-damaged infants It is not the single neurologic sign but groups of them that are held to be the most reliable indices of brain abnormality, and the three syndromes mentioned above are the important ones, even though their anatomic and physiologic bases are not completely known In our observations of the neonatal metabolic diseases, we have endeavored to determine whether particular ones consistently manifest themselves by one or another of the three syndromes We are able to af rm this to some degree In cases of hypocalcemiahypomagnesemia, the hyperkinetic-hypertonic syndrome prevails Although most of the other diseases tend to induce the apathetichypotonic state, the hyperactive-hypertonic syndrome may represent the initial phase of the illness and always carries a less ominous prognosis than the apathetic-hypotonic state, which represents a more severe condition regardless of cause We have been least con dent in the recognition of the third putative group of unilateral abnormalities in the metabolic diseases Even more discouraging has been the frequent overlapping of the two other syndromes and the fact that seizures may occur in all of them The anatomic correlate for some of these neurologic abnormalities can be observed by MRI Clearly what is needed is a more de nitive neonatal neurologic semiology utilizing numerous stimulus-response tests, including those described by A Thomas and Dargassis, supplemented by evoked potentials; also needed are ways of accurately quantifying more of the natural activities of this age period Even the brain death syndrome, in which all brainstem-spinal re exes are abolished, has not been fully de ned in the neonate (Adams et al).

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