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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In the past 100 years striking progress has been made in the prevention of mental retardation. Since mental retardation is a symptom rather than a distinct disease entity, its prevention requires attention to many different areas. Heterozygote detection, specific factors of pregnancy, the current status of newborn screening, and major postnatal factors associated with mental retardation are some of the issues discussed in this centennial paper. Although considerable progress has been made, the causes and, hence, the modes of prevention of mental retardation for the majority of retarded individuals are unknown. Continued progress will require the combined efforts of both medical and social scientists if the goal, the prevention of mental retardation, is to be realized.
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PMID:Prevention of mental retardation: the role of medicine. 7 59

The concept of developmental disabilities as a group of problems with origins in the stages of human development has been broadened by recent legislation to include mental retardation, cerebral palsy, epilepsy, autism, dyslexia, and other neurological impairments. The debate continues on whether or not specific disability categories should be named, but the functional aspects of the problems seem to be generally accepted. Potential implications of this legislation for occupational therapy are discussed in this paper. Numerous programs supported by a variety of governmental units and private agencies will need qualified professionals. This paper concludes with a brief list of six developmental disability programs of the University of Michigan University Affiliated Facility and an outline of three models of field placement in developmental disabilities for occupational therapy students.
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PMID:Developmental disabilities. 7 85

A case of adult type mucolipidosis with beta-galactosidase and sialidase deficiency is described. This patient, a woman aged 20, had mental retardation, macular cherry-red spots, corneal clouding, gargoyle-like face, cerebellar ataxia, myoclonus and convulsions beginning at the age of 14. Bony deformities, vacuoles in the peripheral lymphocyte and foamy cells in the bone marrow were also noted. Biopsy study of the sural nerve and vermiform appendix disclosed many vacuoles in almost every kind of cells, although the accumulated substance in these vacuoles could not be characterized histochemically or ultrastructurally. Deficient leukocyte beta-galactosidase and sialidase were confirmed. There was increased urinary sialoglycopeptide and increased siliac acid and hexosamine in the glycoprotein of lymphocytes. Leukocytes sialidase activites of the parents were 30 to 50% of the control values. These results suggest a genetic defect of sialidase.
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PMID:Adult type mucolipidosis with beta-galactosidase and sialidase deficiency. Histological and biochemical studies. 9 67

Methemoglobinemia and mental retardation associated with NADH-diaphorase deficiency was found in a 2-year-old girl of Spanish origin. She showed no NADH-diaphorase activity in either erythrocytes or leukocytes, but electrophoretic studies of the hemolysate showed traces of an enzyme with normal mobility. Cytochrome b5 reductase activity was also found to be absent in the leukocytes of the propostius. Intermediate NADH-diaphorase activity was found in erythrocytes and leukocytes in her parents and her sister in accordance with the autosomal recessive mode of inheritance of this enzymopathy. The relationship between a generalized cytochrome b5 reductase deficiency and the progressive neurological involvement in our patient is discussed briefly.
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PMID:Congenital methemoglobin-reductase (cytochrome b5 reductase) deficiency associated with mental retardation in a Spanish girl. 9 93

A familial disorder was characterized by chorea, ataxia, myoclonus, convulsions, dementia, and mental retardation. In five cases, the main lesion affected cerebellar dentate nuclei, with nerve cell loss, gliosis, chromatolysis, and grumose degeneration. Fibrous glial cell proliferation was detected in the globus pallidus.
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PMID:Familial chorea and myoclonus epilepsy. 9 88

Continuing progress has been made in the exploration of the biochemical causes of mental illness. Recent research has indicated that selected abnormalities of specific isoenzymes play an important role in the pathogenesis of heritable metabolic disorders such as phenylketonuria and Niemann-Pick disease. The roles of "animal lectins" and glycosidic enzymes in brain development and synaptogenesis appear to have received important substantiation within the past year. In additions, it has been shown that the blood-brain barrier can be temporarily altered so that exogenous enzymes can enter the central nervous system, and imperative consideration for enzyme replacement therapy in mental disorders. Less satisfactory progress has been made concerining potential anabolic disorders of lipids affecting the nervous system. Finally, novel experimental directions concerning energy metabolism by the brain offer considerable hope for the elucidation of some of the causes of mental retardation.
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PMID:Inherited metabolic diseases and pathogenesis of mental retardation. 10 26

This report is a sequel to our 1958, 1960 and 1968 reports on a series of patients operated upon for focal epilepsy whose surgical specimens unexpectedly showed histological lesions typical of active encephalitis. None of these patients, now 27 in number, exhibited the clinical picture ordinarily associated with encephalitis. With one exception, all showed a severe focal seizure tendency beginning in infancy or childhood, often associated with episodes of epilepsia partialis continua. In addition, all except 2 showed slowly progressive neurological deterioration, usually hemiparesis and mental retardation, which advanced over periods of months or years before the progression became arrested. No infectious agent has yet been identified by standard viral studies carried out in the most recent 14 patients or by investigation for slow viruses in 6 patients operated upon between 1966 and 1971. The clinical course of this condition is outlined and the role, the timing and the results of treatment by craniotomy and cortical excision are discussed.
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PMID:Further observations on the syndrome of chronic encephalitis and epilepsy. 10 97

The two children of an epileptic woman who underwent therapy with hydantoin during both pregnancies showed the characteristic findings of the fetal hydantoin syndrome: growth retardation, microcephaly, mental retardation, and a distinct hysmorphic pattern. Both exhibited a ridged metopic suture, hypertelorism, a short nose with a broad base, hypoplasia of the distal phalanges and nails of the toes, and inguinal hernias. In addition the 18-month-old girl exhibited epicanthal folds, strabismus, ptosis, and a small ventricular septal defect; she had been exposed in utero to 300 mg mesantoin daily. Her 6 1/2-year-old brother was more severely retarded, lacking speech and presenting with infantile autism. During pregnancy the mother had taken 400 mg mesantoin daily. About half of the offspring of epileptic women treated with hydantoin during pregnancy are mentally retarded, and 11% exhibit in addition the pattern of dysmorphic findings known as the fetal hydantoin syndrome. Hydantoin should therefore be strictly avoided in epileptic women of child-bearing age unless safe contraceptive measures are taken. In the event of pregnancy, therapeutic abortion should be considered if hydantoin therapy must be maintained.
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PMID:[Fetal hydantoin syndrome in siblings]. 10 83

Comprehensive screening programs to control congenital hypothyroidism (CH), a preventable form of mental retardation, are being considered by some public health agencies. The proposed programs would test neonates' blood for thyroxine and, if warranted, provide follow-up testing and therapy. The estimated cost of detecting a single case of CH is $9,300, which includes specimen collection, laboratory analysis, and retesting of border-line cases. The present value of the treatment costs of CH adds $2,500 per case, a total cost of $11,800 per case detected and child treated. The economic benefits (averted costs of institutionalization and special education and increased productivity of the affected person) are estimated to have a present value of $105,000 per case, yielding a cost-benefit ratio of 1:8.9.
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PMID:Congenital hypothyroidism control programs. A cost-benefit analysis. 10 9

A 14-year-old boy was found to excrete excessive amounts of acidic glycosaminoglycans which were predominantly chondroitin 4-sulfate and chondroitin 6-sulfate. Clinical features included dwarfism, mental retardation, coarse facies, deformities of the spine, hip joints and thorax, and granulations in leucocytes. The clinical and biochemical features found in this boy were compared with the known types of mucopolysaccharidosis and it has been concluded that this case is a new type of mucopolysacchariduria.
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PMID:Chondroitin 4- and 6-sulfaturia: a new type of inborn error of metabolism? 10 12


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