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NORMAL DEVELOPMENT OF THE NERVOUS SYSTEM
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and had then deteriorated In such infants it can even be shown that various test procedures yield lower scores with progressing age (from 3 years onward); this is due not to a decline in ability but to the fact that the tests are not comparable at different times In the rst 3 years, the tests are weighted toward sensorimotor functions and after that toward perception, memory, and concept formation Interestingly, the development of language depends upon both groups of functions, needing a certain maturation of the auditory and motor apparatus at the start and highly specialized cognitive skills for continued development These and other aspects of development of speech and language have been considered earlier in this chapter and are commented on further in Chaps 23 and 38 Members of both groups of these so-called mildly retarded individuals exhibit a number of noteworthy features that have medical and social implications Although not overtly dysmorphic and having a normal or low-normal head circumference, they have a high incidence of minor congenital anomalies of the eyes, face, mouth, ears, and hands; they tend to be sickly, and the more severely retarded among them have poor physiques and are often undersized Deviant behavior occurs frequently (in 7 percent of nonretarded children, in 29 percent of the retarded, and in 58 percent of the epileptic retarded, according to Rutter and Martin) Most often, this behavior takes the form of poor self-control and aggressiveness, especially pronounced in children with temporal lobe epilepsy Other behavioral disturbances are restlessness, repetitive activity, explosive rage reactions and tantrums, stereotyped play, and the seeking of sensory experiences in unusual ways (Chess and Hassibi) Pica (the compulsive ingestion of nonnutritive substances) is a problem between ages 2 and 4 years of age but is also seen in normal neglected children The parents of a large proportion of children with all of these abnormal behaviors fall into the lowest segment of the population socially and economically; in other words, the parents may lack the competence to maintain stable homes and to nd work, for which reason abandonment, neglect, and child abuse are frequent in this group The majority of children with deviant behavior need to be placed in special classes or schools, and special measures must be taken to reduce the tendency to truancy, sociopathy, and criminality An endless debate is centered on matters of causation whether these categories of mild retardation are products of a faulty genetic in uence, which prevents successful competition and adaptation, or of societal discrimination and lack of training and education coupled with the effects of malnutrition, infections, or other exogenous factors Surely both environmental and genetic factors are at work, although the relative importance of each has proved dif cult to measure (Moser et al) As mentioned earlier, a pathologic basis for most cases of mild mental retardation has not been established No visible lesions have been discerned in the brains of this group, unlike those of the severely retarded (pathologic) group, in which malformations and a variety of destructive lesions are obvious in all but 5 to 10 percent of cases Admittedly, the brains of some of these individuals are about 10 percent underweight, but one cannot at present interpret what this means It is certain that new methodologies, perhaps relating to neuronal connectivity, will be needed if the cerebra of the subnormal extreme of the general population are to be differentiated from normals Differences might be expected in terms of the number of neurons in thalamic nuclei and cortex, in dendriticaxonal connectivity, or in synaptic surfaces, elements that are not being assayed by the conventional techniques of tissue neuropathology The observations of Huttenlocher, who found a marked
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sparsity of dendritic arborization in Golgi-Cox preparations, and of Purpura, who found an absence of short, thick spines on dendrites of cortical neurons and other abnormalities of dendritic spines, are the rst steps in this direction Sex linkage is a notable feature of some types of mental retardation Renpenning and colleagues reported a series of 21 mentally retarded males in three generations of a Canadian family, all free of any congenital malformations and with normal head size, and Turner and coworkers have described a similar Australian series (page 888) No chromosomal abnormality has been found The fragile-X syndrome (page 889) is another in this group, predominating in males and accounting for about 10 percent of all male retardates They may be physically normal except for large testicles Other X-linked forms of mental retardation that have few or no dysmorphic features besides Renpenning and fragile-X syndromes include the Partington, Lowe, Lesch-Nyhan, and Menkes syndromes and adrenoleukodystrophy, each with special characteristics in addition to mental retardation, as discussed in Chaps 37 and 38 Numerous other X-linked retardation syndromes with accompanying neurologic anomalies have been delineated; for example, the one due to a mutation in the oligophrenin gene, in which there is epilepsy, and another involving cerebellar hypoplasia Diagnosis Infants should be considered at risk for mental subnormality when there is a family history of mental de ciency, low birth weight in relation to the length of gestation (small-for-date babies), marked prematurity, maternal infection early in pregnancy (especially rubella), and toxemia of pregnancy In the rst few months of life, certain of the behavioral characteristics described above are of value in predicting mental retardation Prechtl and associates have found that a low Apgar score (especially at 5 min after delivery, Table 28-3), accidity, underactivity, and asymmetrical neurologic signs are the earliest indices of subnormality in the infant Slow habituation of orienting reactions to novel auditory and visual stimuli and the presence of ne motor de cits (as previously discussed under Delays in Motor Development ) are other early warnings of mental retardation In the rst year or two of life, suspicion of mental retardation is based largely on clinical impression, but it should always be validated by psychometric procedures Most pediatric neurologists utilize some of the criteria laid down by Gesell and Amatruda or the Denver Developmental Screening Scale, from which a developmental quotient (DQ) is calculated For testing of preschool children, the Wechsler Preschool and Primary Scale of Intelligence is used, and for school-age children, the Wechsler Intelligence Scale for Children is preferred IQ tests for preschoolers must be interpreted with caution, since they have had less predictive validity for school success than the tests that are used after 6 years of age In general, however, normal scores for age on any of these tests essentially eliminate mental retardation as a cause of poor school achievement and learning disabilities; special cognitive defects may, however, be revealed by low scores on particular subtests Retarded children not only have low scores but exhibit more scatter of subtest scores Also, like demented adults, they generally achieve greater success with performance than with verbal items It is essential that the physician know the conditions of testing, for poor scores may be due to fright, inadequate motivation, lapses in attention, dyslexia, or a subtle auditory or visual defect rather than a developmental lag Surprisingly for the neurologist, in this group of retarded children without other neurologic or physical signs, analyses by neu-
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