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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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robehavioral and psychologic methods have not disclosed the basic fault in nervous functioning Is there one domain of faulty psychologic function such as failure of learning, inattentiveness, or faulty perception that underlies all forms of mental retardation Or are there several domains, differing from one case to another or one disease to another Only by the most innovative and sophisticated neuropsychologic studies will answers to such questions be obtained The EEG, in addition to exposing asymptomatic seizure activity, shows a high incidence of other abnormalities in the mentally retarded Presumably this is due to a greater degree of immaturity of the cerebrum at any given age However, a normal EEG is not infrequent and of relatively little help Moreover, CT scanning and MRI have been singularly unhelpful in revealing abnormalities in this group of children In the diagnosis of milder grades of retardation, always to be considered are the possible effects of severe malnutrition, neglect and deprivation, chronic systemic disease, iodine de ciency, impaired hearing and vision, and possibly childhood psychosis Of particular importance is the differentiation of a group of patients who are normal for a variable period after birth and then manifest a progressive decline from disease of the nervous system This type of disorder is representative of the group of hereditary metabolic and degenerative diseases discussed in Chap 37 Seizure disorders (and anticonvulsant medications) can impair cerebral function, and several special childhood seizure disorders are associated with a progressive decline in mental function in this group of patients (Chap 16) Management Since there is little or no possibility of treating the condition(s) underlying mental retardation and there is no way of

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