generate barcode c# .net DEVELOPMENTAL DISEASES OF THE NERVOUS SYSTEM in Microsoft Office


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velopment However, such patients are said to regain mental function when fed The authors have been impressed with the ability of the nervous system to withstand the effects of nutritional de ciency, perhaps better than any other organ The action of exogenous toxins during pregnancy is another factor to be considered Severe maternal alcoholism has been linked to a dysmorphic syndrome and mental retardation, but the ndings of several studies have not been consistent (see Chap 42); a similar problem attaches to maternal exposure to anticonvulsant medications (see Chap 16) Surprisingly, maternal addiction to opiates, while causing an opiate withdrawal in infants for weeks or even months (Wilson et al), seems not to result in permanent injury to the nervous system The importance of exposure to extremely small amounts of environmental lead is also controversial The effect of psychologic deprivation on cognitive development has been of interest Following the observations that complete isolation of young female monkeys had a devastating effect on their later sexual and nurturing behavior, the idea became popular that such deprivation might cause faulty mental development in humans Orphaned and neglected babies were found to be inactive, apathetic, and backward in comparison with those who were constantly stimulated by caring mothers But surprisingly, when nurtured properly at a later time, these babies soon caught up with their peers This general idea of psychologic deprivation has been the basis of many interesting educational programs for poor and neglected children To this day, however, it has not been proven that sensory, emotional, and psychologic deprivations of a degree observed in humans are the causes of severe mental retardation or repeated scholastic failure However, the problem is a complex one, and the arguments pro and con have been carefully elaborated by Haywood and Wachs The controversies regarding the effects of prematurity, maternal hypertension, and eclampsia, which are often associated with neonatal cerebral pathology and retarded psychomotor development, have been mentioned earlier in this chapter The genetic types of severe mental retardation (Down syndrome, fragile X, Prader-Willi, etc), including the novel type associated with subtelomeric abnormalities, have been discussed in an earlier section
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normalities, as outlined in Table 38-7 Data so obtained allow classi cation into one of three categories, as follows: 1 In those with somatic abnormalities (with or without obvious neurologic signs), one assumes the presence of a maldevelopment of the brain, possibly caused by a chromosomal abnormality The psychomotor retardation is usually severe and often nongenetic and, as a rule, has a well-de ned neuropathology Diagnosis is determined by the gestalt of physical signs The possible maldevelopments are numerous and diverse and have been summarized in Tables 38-1 and 38-7; some of the main ones have been described earlier in the chapter One inevitably turns to the several atlases to denominate the syndromes (Holmes et al; Jones) 2 In the group in which the abnormalities are con ned to the nervous system, attention is focused on a larger number of diseases, many due to exogenous factors such as perinatal hypoxia-ischemia, pre- or postnatal infections, trauma, and so on There are usually conspicuous neurologic signs The degree of mental retardation is variable, depending on the location and extent of a demonstrable neuropathology Usually the family history is negative, but careful questioning of parents regarding the pregnancy, delivery, and early postnatal period and examination of hospital records from birth may disclose the nature of the neurologic insult 3 The third category of retardates is one in which neither somatic anomalies nor focal neurologic signs are present, or they are minimal The more severely retarded of this special group are represented by the following disease states: autism (Asperger-Kanner syndrome), the Rett and Williams syndromes, and the fragile X and Renpenning syndromes All of these but autism are now known to have a genetic basis, as noted earlier in the chapter, and are described together below The practical importance of this clinical approach is that it directs the intelligent use of laboratory procedures for con rmation of the diagnosis CT scanning and MRI are useful in clarifying maldevelopment and neurologic diseases but are seldom helpful in the third group of cases EEG con rms seizure discharges when there is uncertainty as to the nature of episodic neural dysfunction Karyotyping and genetic studies are useful in group 1 and rarely in group 2 patients The major pitfall to be avoided in this clinical approach is in mistaking a hereditary metabolic disease for a developmental one Here one is helped by the fact that manifestations of the metabolic diseases are not usually present in the rst days of life; they appear later and are progressive and often associated with visceral abnormalities However, some metabolic diseases are of such slow progression that they appear almost stable, especially the late-onset ones, such as one type of metachromatic leukodystrophy, late-onset Krabbe leukodystrophy, adult adrenoleukodystrophy, and adult hexosaminidase de ciency (see Chap 37)
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