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

This paper is a summary of our observations on 105 cases of infantile spasms. The age of onset was around six months after birth, but the patients came for treatment mainly about one year after onset. Fever of unknown cause, asphyxia, birth injury, infection of the central nervous system, tuberous sclerosis, phenylketonuria and recent immunization etc. were possible etiology. Clinically, it is characterized by head nodding, mental retardation, myoclonic jerks and various neurologic deficits. EEG findings showed classical or modified arrhythmia or other epileptiform patterns. About one third of 22 cases examined had abnormal brain stem auditory evoked potentials. Among 42 patients who underwent CT scanning before ACTH treatment, 18 were normal and 7 abnormal; during ACTH treatment 3 normal and 4 abnormal; after completion of treatment, 4 normal and 6 abnormal, suggesting no further atrophy of the brain. Examination of trace elements of the hair by proton-induced X-ray emission (PIXE) method in 23 patients revealed a significant difference in lead, calcium and zinc contents between patients and 101 controls, but no statistical difference in iron and copper contents between the two groups. Sodium valproate, prednisone and ACTH appear to be effective in the treatment of infantile spasms. Eight patients fully recovered, and they can go to school without difficulty. Many patients derived various degrees of improvement of the satisfaction of their parents. Two patients were still amended and often attacked by myoclonus. The effects, side effects of these drugs, and the possible pathogenesis were discussed.
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PMID:[Infantile spasms. A retrospective study of 105 cases]. 131 83

We report on a family with X-linked mental retardation (XLMR) and severe spastic paraplegia. Appearance is normal but there is severe involvement of the lower limbs (affected relatives never walked), with minimal involvement of the upper limbs and unusual MRI findings including macrogyria, white matter hypoplasia, lack of myelination and a markedly increased paramagnetic signal suggestive of iron deposition. Linkage studies documented possible linkage, with no recombination, between the disease locus and DXS424. A 7-point linkage analysis yielded a maximum LOD score of 1.9, (theta = 0.00) for three loci spanning Xq22-q25. The combination of the unusual clinical and MRI findings and the tentative localization to a region different than other XLMR syndromes with spastic paraplegia, provide good evidence that this is a new XLMR syndrome.
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PMID:Spastic paraplegia with iron deposits in the basal ganglia: a new X-linked mental retardation syndrome. 160 30

This paper is a summary of our observations on 105 cases of infantile spasms. The age of onset was around six months after birth, but the patients came for treatment mainly about one year after onset. Fever of unknown cause, asphyxia, birth injury, infection of the central nervous system, tuberous sclerosis, phenylketonuria and recent immunization etc. were complained. Clinically, it is characterized by head nodding, mental retardation, myoclonic jerks and various neurologic deficits. EEG findings showed classical or modified arrythmia or other epileptiform patterns. About one third of 22 cases examined had abnormal brain stem auditory evoked potentials. Among 42 patients who underwent CT scanning before ACTH treatment, 18 were normal and 7 abnormal; during ACTH treatment 3 normal and 4 abnormal; after completion of treatment, 4 normal and 6 abnormal, suggesting no further atrophy of the brain. Examination of trace elements of the hair by particle-induced X-ray emission (PIXE) method in 23 patients revealed a significant difference in lead, calcium and zinc contents between patients and 101 controls, but no statistical difference in iron and copper contents between the two groups. Sodium valproate, prednisone and ACTH appear to be effective in the treatment of infantile spasms. Eight patients fully recovered, and they can go to school without difficulty. Many patients derived various degrees of improvement to the satisfaction of their parents. Two patients were still amented and often attacked by myoclonus. The effects, side effects of these drugs, and the possible pathogenesis were discussed.
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PMID:Infantile spasms. A retrospective study of 105 cases. 165 8

We report on a 4 generation family of individuals with an X-linked form of mental retardation involving 9 affected males and 5 obligate carrier females. Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to Hallervorden-Spatz disease. Of the 5 known heterozygotes, 3 are dull intellectually, and one of the 3 developed a "presenile dementia." At autopsy she had iron deposition and neuroaxonal dystrophy in the basal ganglia and atrophy of the cerebral cortex. Although the clinical findings among relatives are variable, we conclude that this is a distinct, previously unrecognized X-linked mental retardation syndrome.
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PMID:New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. 201 58

This overview of health programs and conditions in India reveals that health is related to economic development antipoverty measures, food production and distribution, drinking water supply, sanitation, housing, environmental protection, and education. There are urgent requirements for effective intersectorial coordination. Unprecedented growth of 1 million a year has resulted in slums and shanties--a place of epidemics; urbanization has contributed to environmental pollution impacting on health, and water pollution to water-born diseases. Health services are still insufficient to meet the needs. Sanitation practices contribute to cholera, dysentery, diarrhea, enteric fevers, and malaria. Indian Systems of Medicine and Homeopathy must be active in preventive and health care. Accomplishments include in 1987/8 a decline in leprosy cases attributed to the existence of leprosy control units. 40 AIDS Surveillance Units are actively treating and screening. The Naval Goitre Control Programme's goal is replacement of iodized salt for edible salt by 1992, thereby reducing mental retardation and low birth weight babies. The Family Welfare Programme, targets a New Production Rate of Unity before 2000. A National Technology Mission on immunization and the Universal Immunization Programme plans to be operational in all districts by 1990. Oral rehydration therapy programs dispense free packets to fill the needs of 1 million children under 5 who suffer from diarrhea 3 times a year with 3 million facing death. The Primary Health Care Programme provides iron and folic acid to women with nutritional anemia and Vitamin A to children. Health service developments have been increased.
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PMID:Status of health in India and its future prospects. 226 69

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

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

The clinical and pathological features of three siblings from nonconsanguineous parents are described. Two of the children died at 6 1/2 and 7 months of age of a central nervous system disorder characterized by severe behavioral retardation, hypotonia, and pyramidal tract signs. The third child, now 8 years old, has global mental retardation, inability to talk, marked tremors, and gait disturbances. All children exhibited inability to concentrate or acidify the urine, with growth delay partially corrected in the living child by alkali therapy. Computed tomographic scans revealed hyperdense lesions in the thalamus of one of the siblings and more striking hyperdensity of the basal ganglia in the eldest child. Findings at postmortem examination in two children, and by renal and sural nerve biopsy in the third, include swollen axons in the internal capsule and peripheral nerves, and neurons with iron-staining deposits, gliosis, and macrophages containing lipofuscin pigments in the brain. The renal findings include material positive for periodic acid-Schiff and hyperdense granular deposits in renal tubules.
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PMID:A sibship with neuroaxonal dystrophy and renal tubular acidosis: a new syndrome? 688 24

The total content of zinc in the adult human body averages almost 2 g. This is approximately half the total iron content and 10 to 15 times the total body copper. In the brain, zinc is with iron, the most concentrated metal. The highest levels of zinc are found in the hippocampus in synaptic vesicles, boutons, and mossy fibers. Zinc is also found in large concentrations in the choroid layer of the retina which is an extension of the brain. Zinc plays an important role in axonal and synaptic transmission and is necessary for nucleic acid metabolism and brain tubulin growth and phosphorylation. Lack of zinc has been implicated in impaired DNA, RNA, and protein synthesis during brain development. For these reasons, deficiency of zinc during pregnancy and lactation has been shown to be related to many congenital abnormalities of the nervous system in offspring. Furthermore, in children insufficient levels of zinc have been associated with lowered learning ability, apathy, lethargy, and mental retardation. Hyperactive children may be deficient in zinc and vitamin B-6 and have an excess of lead and copper. Alcoholism, schizophrenia, Wilson's disease, and Pick's disease are brain disorders dynamically related to zinc levels. Zinc has been employed with success to treat Wilson's disease, achrodermatitis enteropathica, and specific types of schizophrenia.
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PMID:Zinc, the brain and behavior. 708 16

Three late infantile cases of neuroaxonal dystrophy are presented, two of them second cousins with Hallerworden-Spatz disease and one sporadic case with Seitelberger's disease. At about 1 1/2 years of age the patients with Hallerworden-Spatz disease developed clinical signs including progressive extrapyramidal motor disorder and mental retardation. They died at 8 and 11 years. Iron deposits and axonal dystrophy were found in the pallidum. The changes are compared to those in a case of infantile neuroaxonal dystrophy (Seitelberger's disease), the first to be reported in Scandinavia.
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PMID:Neuroaxonal dystrophy in childhood. Report of two second cousins with Hallerworden-Spatz disease, and a case of Seitelberger's disease. 715 29


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