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

This is a brief summary of our research on the prevention or reduction of the effects of brain damage. I believe that the results contain a number of exciting promises. At this time, the greatest hope for effective remedial interventions comes from the choline and metyrapone studies. However, I am also reminded of the components a psychiatrist who worked with children in the heart of Philadelphia made some 20 years ago at a conference on mental retardation. He said that the most significant contribution to the elimination of mental retardation in his city would be the elimination of lead-based paints from the walls of ghetto apartments, an intervention second only in effectiveness to the elimination of the ghettos themselves. The importance of early interventions with individuals suffering brain damage, either general or specific, is clearly recognized. In research now well underway, Yong Shen, William Smotherman, and I have found encouraging results indicating that both short- and long-term effects of hypoxia induced by clamping the rat's umbilical cord can be attenuated by the prior administration of a calcium L channel antagonist. If those results are upheld in further studies, the principles of prevention of damage described in this article for the adult may prove to be even more potent in the young.
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PMID:Brain plasticity after damage. 231 17

A 3 years old boy was admitted due to recurrent attacks of tetany and carpopedal spasm since one and a half years of age. The tetany lasting for 1-2 minutes in each episode was often preceded by an upper respiratory tract infection and occurred 2-3 times a month. Both birth and family history were unremarkable. Physical findings showed mild psychomotor retardation with positive Chvostek sign. Laboratory examination revealed hypocalcemia, hyperphosphatemia, and low serum parathyroid hormone level. EEG showed abnormal tracing with increased slow waves. Head CT Scan demonstrated symmetrical calcification in the basal ganglia region. The clinical features and laboratory findings were consistent with hypoparathyroidism. The mechanism of calcium deposit in the basal ganglia still remains unclear. Tetany, muscle cramping and seizures secondary to hypocalcemia are the most common neurologic signs which respond quickly to calcium replacement. Subsequent supplemental therapy resolved movement disorders and mental retardation. If early treatment prior to the tetanic episodes is instituted in a patient with hypoparathyroidism, it may prevent the development of complications such as intracranial calcifications, cataract and permanent retardation.
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PMID:[Primary hypoparathyroidism with basal ganglia calcification: report of a case]. 263 91

X-linked DMD is a serious condition characterized by progressive muscle wasting and weakness and death ensues in the late teens or early twenties. There is considerable clinical variability even within families and some suggestions of genetic heterogeneity. Though skeletal muscle is primarily involved, other tissues are also affected including cardiac and smooth muscle. Other abnormalities include mental retardation, thymus hyperplasia and possibly certain endocrinological changes. The responsible locus is at Xp21 and the gene product is a very large protein (dystrophin) which is normally localised to muscle cell membranes. It is hypothesised that its absence in DMD may result in instability of the muscle cell membrane with resultant ingress of calcium, an increase in intracellular calcium, and cell death. An understanding of this pathway is important in devising an effective treatment.
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PMID:Clinical and molecular studies in Duchenne muscular dystrophy. 266 10

Williams syndrome is characterized by peripheral artery stenosis such as supravalvular aortic stenosis, a distinctive dysmorphic facies, mental retardation and occasionally by transient infantile hypercalcemia. Twenty-five children with this syndrome underwent abdominal ultrasound examinations in our institution between 1983-1988. Five showed an increase in the renal medullary echogenicity consistent with medullary nephrocalcinosis. The echogenicity did not change with time. Two of the five had documented hypercalcemia in infancy. The other three did not have calcium measurements in infancy. No patient with normal serum calcium measurements during infancy developed nephrocalcinosis. Renal ultrasound may add information as to the incidence of infantile hypercalcemia in Williams syndrome.
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PMID:Increased renal medullary echogenicity in patients with Williams syndrome. 267 4

The calcium, magnesium, zinc, iron, and copper content found in scalp hair of 40 children with mental retardation were compared with 37 healthy normal children who were between the ages of 4 and 14 yr. The hair of children with mental retardation showed significantly lower levels of iron, copper, and magnesium (p less than .001) and higher levels of calcium (p less than .001). The zinc content did not differ between the two groups. The differences in levels of hair trace elements between normal children and those with mental retardation could be of particular interest in the investigation of the cause of mental retardation among children.
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PMID:Hair trace elements and mental retardation among children. 319 75

An 8-year-old boy with vitamin D-deficiency rickets, increased serum creatine kinase (CK), and hypocalcemia is described. At 5 years of age, he was evaluated because of recurrent tonic seizures. He had growth retardation, microcephaly, quadriplegia, mental retardation, and epilepsy. Muscle strength was difficult to assess because of multiple joint contractures. Deep tendon reflexes were hyperactive. Laboratory data indicated rachitic changes on x-ray, hypocalcemia, low serum 25-hydroxyvitamin D3 (25-OH-D) and 1-alpha-25-dihydroxyvitamin D3 (1-alpha-25-[OH]2-D) levels, a normal response to the Ellsworth-Howard test, and markedly increased CK. Electromyography and nerve conduction velocities were normal. The patient responded to 1-alpha-OH-D treatment with increased serum calcium and normal CK activity; a significant correlation (p less than 0.01) was observed between calcium and log CK. The clinical course and laboratory findings supported the hypothesis that the increased CK was due to hypocalcemia, which in turn was due to the vitamin D deficiency in the severely handicapped child with malnutrition.
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PMID:Increased serum creatine kinase due to hypocalcemia in vitamin D deficiency. 350 46

We report a 3-year-old Japanese girl who developed acute encephalopathy while receiving calcium hopantenate (Calcium D-(+)-4-(2, 4-dihydroxy-3,3-dimethylbutyramido) butyrate hemihydrate). She had hyperammonemia, elevated CPK, lactic acidemia and pyruvic acidemia, however, she did not show elevated SGOT or SGPT. Calcium hopantenate has been used in Japan for the treatment of mental retardation with behavior abnormalities. Recently there have been three reports on the occurrence of Reye-like syndrome in patients receiving this drug. Clinical signs and laboratory data of these patients are similar to those of Reye syndrome. Calcium hopantenate causes pantothenic acid deficiency in the young rat, which may reduce the content of coenzyme A. If this drug decreases coenzyme A biosynthesis, it may reduce beta-oxidation of fatty acids and levels of dicarboxylic acids would increase because of increasing omega-oxidation. We suspect that there is a possible relationship between the occurrence of acute encephalopathy and calcium hopantenate therapy.
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PMID:Acute encephalopathy with hyperammonemia and dicarboxylic aciduria during calcium hopantenate therapy: a patient report. 382 51

A 16-year old girl of short stature, with round face, mental retardation, and Albright's dimple sign was admitted for evaluation of hypocalcemia. Her serum calcium levels were 6.3-8.0 mg/dl, and phosphorus 6.9-7.8 mg/dl. Although a diagnosis of pseudohypoparathyroidism was initially suggested, her serum iPTH concentration was low (0.1 ng/ml). Furthermore, an injection of synthetic human parathyroid hormone (100 U, hPTH (1-34] was followed by a marked increase in urinary excretion of cyclic AMP and phosphorus. This case suggests that a shortened metacarpal is not a reliable guide in distinguishing between idiopathic hypoparathyroidism and pseudohypoparathyroidism and that a standard Ellsworth-Howard test is a prerequisite to differential diagnosis.
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PMID:A patient of short stature with idiopathic hypoparathyroidism round face and metacarpal signs. 609 68

The adequacy of dietary intakes of socioculturally mentally retarded children, nonretarded children of low socioeconomic status (SES), and nonretarded children of average SES were studied. The socioculturally retarded children showed significantly lower daily intakes of almost all basic nutritional substances than did the nonretarded children in either the low- or average-SES groups. We also found that the socioculturally retarded group's intake of iron, calcium, thiamine, and ascorbic acid was below National Academy of Sciences/National Research Council recommended daily allowance levels, a finding that did not occur for either of the other groups. Although the precise developmental significance of these findings is somewhat unclear, it seems prudent to incorporate a focus on dietary provisions (as well as on other home conditions) in future intervention programs for children at high-risk for sociocultural mental retardation.
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PMID:Nutritional intakes of socioculturally mentally retarded children vs. children of low and average socioeconomic status. 661 66

Relationship of antiepileptics to serum alkaline phosphatase (ALP), serum calcium (Ca) and inorganic phosphate (P) were studied in 172 epileptic patients treated with antiepileptics for clarifying the related factors to produce osteomalacia following antiepileptics administration. Laboratory findings of ALP, Ca, and P were compared with normal value and determined as abnormal by exceeding the normal limit (mean +2SD (ALP), mean-2SD (Ca, P)). The following results were obtained: 1) In the 172 patients, 20 cases (11.6%) showed abnormal value of ALP, 12 cases (7.0%) of Ca and 41 cases (23.8%) of P (Single abnormal groups). On the other hand, 47 cases (27.3%) were found abnormal in two or three of ALP, Ca and P (Combined abnormal group). The rest 52 cases (30.2%) of the patients showed all normal value (Normal group). 2) Abnormal value of ALP and/or Ca were observed mostly before 20 years of age. The patients with abnormal P were more distributed in age than others. 3) The earlier and/or the longer administration of antiepileptics is prone to produce the more abnormal value. 4) Acetazolamide, metharbital, primidone, carbamazepine and mephobarbital were more used in combined group than in normal group, and polypharmaceutical use of these antiepileptics was supposed to be related to the abnormality of ALP, Ca and P. There was no different use of diphenyl-hydantoin and phenobarbital in frequency and amount between combined group and normal group. 5) Mental retardation and epileptic personality changes were observed more frequently in combined abnormal group than in normal group. 6) No significant relations were observed between clinical seizure types, seizure frequencies and abnormal laboratory findings.
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PMID:[Changes in serum levels of alkaline phosphatase, calcium, and inorganic phosphate following antiepileptic therapy (author's transl)]. 732 19


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