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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The studies included 64 children with newly diagnosed epilepsy, aged from 6 to 15 years of life. In 25 children with partial and secondary generalized seizures monotherapy with carbamazepine was introduced; in 19 children with primary generalized seizures--with phenobarbital, and in patients with both types of seizures--with primidone. Monotherapy was controlled by means of blood serum drug concentration level monitoring; the therapy was successful in all the children. The group did not include patients with mental retardation, and epilepsy was idiopathic. Prior to the institution of treatment, a single determination of blood serum triiodothyronine, thyroxine, TSH, prolactin, cortisol, LH and testosterone was made. Psychological test were carried out employing Wechsler's scale, Bender-Santucci test, rhythmic structures developed by Mira Stambak and test of manual dexterity (card display). In order to evaluate short-term effects of the employed drugs upon the blood serum concentration values of the studied hormones, a repeated determination was made one month after the initiation of therapy. The third determination was made one year after the onset of treatment in order to assess the long-term effects. The effect of drugs upon their cognitive functions was assessed in a follow-up psychological testing performed after one year of therapy. The studies combined with statistical analysis led to a conclusion that after one month of monotherapy there occurred a significant drop in thyroxine concentration levels, still augmented after one year. Patients treated with carbamazepine showed a significant decrease of T3 levels after one month and one year, whereas treatment with phenobarbital and primidone did not result in significant changes of T3 concentration. Yet, T3 and T4 concentration values did not exceed normal limits. No type of monotherapy resulted in significant long-term changes of TSH concentration levels. No clinical signs of hypothyroidism nor goiter were observed in the studied children. After one month of monotherapy with carbamazepine and phenobarbital there was observed a significant increase of prolactin and cortisol levels, which was absent after one year. The values observed did lie within normal limits. No significant changes were observed with respect to the effect of the studied drugs upon blood serum LH and testosterone levels. After a one-year monotherapy with primidone the children revealed a significant improvement of results measured on performance scale and by means of a full Wechsler scale. Carbamazepine and phenobarbital did not affect the intelligence quotient of the studied children.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[The effect of monotherapy on concentration of selected blood serum hormones and upon cognitive function of children with epilepsy]. 134 59

Thyroid hormone deficiency is frequently associated with central nervous system (CNS) disturbances such as mental retardation, convulsions, coma etc. Studies of quantitative changes in CNS in hypo- or hyperthyroidism are scarce. Evoked potentials is a good method of assessing the electrical response of the brain to different (visual, acoustic, somatosensory) stimuli and has been used extensively in the study of brain disturbances and to a lesser degree in metabolic diseases. We studied the visual evoked potentials (latency and amplitude) in 12 patients with hyperthyroidism and 15 patients with hypothyroidism, before treatment and after they became euthyroid. Four of the hyperthyroids (33%) had abnormally prolonged (> 104 msec) latencies before therapy. Two of them had clinical exophthalmos. No change was observed after euthyroidism was achieved. On the contrary 7 out of 15 (47%) hypothyroids had abnormally prolonged latencies which became normal in 4 when euthyroidism was achieved. Amplitude was lower than normal in 6 and became normal only in one of them after treatment. None of the hyperthyroid patients had amplitude changes. In conclusion, hypothyroid patients may have changes in the amplitude and/or the latency of visual evoked potentials which are reversible to a great extent with thyroxine. Evoked potentials is another method of studying in humans the metabolic effects of thyroxine deficiency in CNS.
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PMID:Visual evoked potentials in hypothyroid and hyperthyroid patients before and after achievement of euthyroidism. 149 Nov 23

Nutritional iodine deficiency and endemic goiter are widely prevalent in developing countries, affecting an estimated 1 billion people. Recent studies in India, using radioimmunoassay methods, have shown that the incidence of neonatal hypothyroidism in endemic goiter regions is more than a hundredfold higher than the incidence in nonendemic regions. This knowledge has given a new momentum to the iodine prophylactic program in the country, resulting in the protection of hundreds of thousands of newborns from mental retardation.
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PMID:Neonatal hypothyroidism in India. 157 62

1. An insufficient dietary supply of iodine results in the development of a variety of disorders of thyroid function and development of the fetus and young infants, grouped under the general heading of Iodine Deficiency Disorders, IDD. Endemic goiter constitutes the most spectacular disorder from the clinical and epidemiological point of view. However, the most serious consequence of iodine deficiency is the impact on neuro-intellectual development at a population level, varying from endemic mental retardation to the complete picture of endemic cretinism. 2. Considering that mental retardation due to iodine deficiency represents the longterm consequence of hypothyroidism occurring during the perinatal period, it is presently recognized that the target groups to the effects of iodine deficiency at a population level are, by order of priority, the fetus, the newborn, the pregnant woman, the child and, finally, the adult. 3. The newborn is more susceptible than the adult to the effects of iodine deficiency. Consequently, systematic screening for congenital hypothyroidism in endemic areas is a particularly sensitive index for detecting the presence and action of goitrogens in the environment and for monitoring the effects of programs of iodine prophylaxis. 4. IDD are particularly prevalent in developing countries. However, large areas or even countries in Europe are still obviously iodine deficient. For example, the iodine intake in adults in Belgium is 50 to 70 micrograms/day which is lower than the recommended dietary allowance for iodine (at least 100 micrograms/day). 5. IDD should be corrected on a world scale, including in Europe. Special attention should be devoted to the protection of mother and child. Within this framework, the iodine content of formula milk should be increased in Europe. 6. Finally, correction of iodine deficiency in Europe would decrease the avidity of the thyroid for iodide and, consequently, would constitute the most efficient preventive measure in case of nuclear fallout.
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PMID:[Disorders due to iodine deficiency]. 196 55

Johanson-Blizzard syndrome (JBS) is an autosomal recessively inherited disorder that is characterized by pancreatic insufficiency, a distinct appearance with hypo- or aplasia of the alae nasi and dental anomalies. We report on 3 patients with JBS who demonstrate the clinical variability of additional symptoms. In contrast to the common mental retardation in JBS we stress the outstanding intellectual abilities of one patient. It is important to realize the treatable dysfunctions in JBS. Specific therapy of e.g. pancreatic insufficiency and hypothyroidism can lead to a marked improvement of the clinical course. For the first time we discuss a possible sex influence. There is evidence that females have a better prognosis. The literature is reviewed, and aspects of differential diagnosis of JBS are considered.
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PMID:[Johanson-Blizzard syndrome]. 202 65

The carbohydrate-deficient glycoprotein syndrome is a newly described hereditary disorder which may be due to a defect in the glycoprotein metabolism. Predominant symptoms are mental retardation, epilepsy, cerebellar ataxia, polyneuropathy, squint, retinitis pigmentosa, retarded growth, hypothyroidism and liver steatosis. Increased serum glycoprotein-deficient transferrin is a marker of the disease and confirms the diagnosis. We describe four Norwegian children with this syndrome. Olivopontocerebellar degeneration was found upon examination of the brain in two patients who died.
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PMID:[The carbohydrate deficient glycoprotein syndrome]. 1044 Oct 90

Endemic cretinism is the most severe manifestation of dietary iodine deficiency. Two forms of the syndrome are traditionally described: neurological and myxoedematous. Although this classification highlights the important neurological sequelae of the disorder it implies that myxoedematous cretins have an alternative mechanism. Further, the nature of the neurological deficit associated with both types of endemic cretinism has received scant attention in recent times considering that it remains a common disorder in many parts of the world. The nature and extent of the neurological deficit found in endemic cretinism was investigated in 104 cretins from a predominantly myxoedematous endemia in western China and in 35 cretins from central Java, Indonesia, a predominantly neurological endemia. We found a similar pattern of neurological involvement in nearly all cretins from both endemias, regardless of type (myxoedematous or neurological), and of current thyroid function. Hallmarks of the neurological features included mental retardation, pyramidal signs in a proximal distribution and extrapyramidal signs. Many patients exhibited a characteristic gait. This probably reflected pyramidal and extrapyramidal dysfunction, although joint laxity and deformity were important contributing factors. Other frequently encountered clinical features were squint, deafness, and primitive reflexes. Cerebral computerized tomography (CT) revealed basal ganglia calcification in 15 of 50 subjects. The presence of basal ganglia calcification was confined to cretins with severe hypothyroidism. Otherwise, cerebral CT scanning demonstrated only minor abnormalities which did not contribute to the localization of the clinical deficits. We conclude that the same neurological disorder is present in both types of endemic cretinism reflecting a diffuse insult to the developing fetal nervous system. These clinical findings support the concept of maternal and fetal hypothyroxinaemia, arising from severe iodine deficiency, as the primary pathophysiological event in endemic cretinism. Differences between the two types of cretinism may be explained by continuing postnatal thyroid hormone deficiency in the myxoedematous type, which results in impaired growth, skeletal retardation and sexual immaturity.
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PMID:The neurology of endemic cretinism. A study of two endemias. 204 52

Newborn screening for inborn errors of metabolism is an established practice that has shown its value in preventing the morbidity, mortality, and mental retardation that ravage the child suffering from an inherited disorder of intermediary metabolism. The American Academy of Pediatrics has taken a strong stand supporting newborn screening for PKU and hypothyroidism for all newborns and has repeatedly stressed the need for such screening to be part of an integrated program that incorporates screening, diagnosis, management, and support. As we enter the 21st century, the challenges of maintaining excellence in existing programs, developing new screening tests, and assuring optimal follow-up and management must be met for all children.
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PMID:Neonatal screening for inborn errors of metabolism: update. 207 63

Congenital hypothyroidism is a preventable cause of mental retardation. Since clinical signs of congenital hypothyroidism do not generally become obvious before three months of age, screening programmes have been introduced in North America and Europe, which consist of T4 or TSH screening on newborn infants on the third day of life. The screening for congenital hypothyroidism was initiated in Pakistan by the Aga Khan University Hospital (AKUH) in March 1987. By April 1988, 5000 neonates were screened and five cases of congenital hypothyroidism were diagnosed. The study revealed the incidence of hypothyroidism to be one case per 1000 newborns which is about 4 times more than that in the West.
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PMID:Neonatal screening for congenital hypothyroidism in Pakistan. 251 33

We present two male sibs with a series of malformations including microcephaly, mental retardation, congenital heart disease, skeletal abnormalities, micropenis, and mild hypothyroidism. Both have had seizures. While the pattern of abnormalities is similar to that previously reported in this journal as an unknown syndrome, the facies is clearly distinct, the hypothyroidism is mild, micropenis is present, and there are additional minor skeletal abnormalities.
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PMID:Unknown syndrome in sibs: microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities. 832 Jul 15


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