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

Infants from low socioeconomic status families were randomly assigned to an instructional day-care program designed to prevent socioculturally caused mental retardation or to a nonintervention control group. This assignment procedure resulted in an equal distribution of full-term, full-birth-weight, fetally malnourished babies in 2 environments varying in intellectually supportive characteristics. The condition of fetal malnourishment was defined by infants having low ponderal indices (PI). At 3 months of age low-PI infants showed lower Bayley Mental Development Index (MDI) scores than normal-PI infants, independent of the environment. In the control group low-PI infants still had lower MDI scores than normal-PI infants at 18 months of age. However, at that time in the day-care group, low-PI infants scored as well as normal-PI infants. These findings were replicated when the infants were 24 months of age with Stanford-Binet intelligence tests. Observations of mothers' involvement with their infants showed that, although all groups had similar amounts of maternal involvement when the babies were 6 months of age, the mothers of low-PI infants in the control group showed less involvement with their infants at 18 months of age than the other mothers. We suggest that this longitudinal study provides experimental evidence for a transactional model of development which emphasizes both newborn infant characteristics and environmental quality as cocontributors to the process of development.
Child Dev 1978 Dec
PMID:Fetal malnutrition: an experimental study of its consequences on infant development in two caregiving environments. 73 50

A karyotype with six de novo autosomal abnormalities in chromosomes 2,4,9,10,12, and 13 was identified in a 7-year-old boy with mental retardation and other minor malformations. The G- and C-banding techniques revealed an equilibrated translocation between autosomes 2 and 4 and between autosomes 9 and 13. One chromosome 10 has lost genetic material from its short arms, probably because of an interstitial deletion. An unidentified chromosomal fragment has become inserted in the long arms of an autosome 12. The G bands demonstrate that genetic material inserted in the autosome 12 is not the genetic material deleted from the autosome 10. The propositus presents clinical features similar to the reported cases with 10p- syndrome. Nevertheless it is not possible to establish the influence of the genetic material inserted in autosome 12 on the propositus' phenotype.
Hum Genet 1978 Dec 18
PMID:10p- syndrome associated with multiple chromosomal abnormalities. 73 25

Cytogenetic studies on a mentally retarded boy revealed an X-Y translocation, karyotype 46,X,t(X;Y)(p22;q11). Only 5 other such cases have been reported and these were all females. The unequivocal male phenotype suggested non-random inactivation of the normal maternally derived X chromosome, and that the non-inactivated X-Y translocation chromosome included the locus for male determination. Confirmation of this was provided by unassociated X and Y chromatin in interphase cells, as well as by reverse banding after BrdU incorporation and autoradiography of metaphase chromosomes. There was anomalous Xg blood group inheritance in the proband, indicating possible localisation of the Xg locus to the terminal portion of the X short arm. Linkage of Xg and a form of X-linked mental retardation is suggested. Close linkage of the Xg locus with the loci for alpha-galactosidase, phosphoglycerate kinase, G-6-PD, and MPS II was excluded.
J Med Genet 1978 Dec
PMID:X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical, and serogenetic studies. 74 19

In the area of Cesena, Italy, the prevalence of epilepsy was about 3/1,000 among the 13,000 children of school age, 6-14 years. Only half the epileptic pupils had a normal scholastic record. One-third were in special classes, nearly all because of mental retardation due either to birth injury or to damage in infancy. The others (17%) were behind by one or more classes, mainly because of a depressive reaction owing (in half of the intelligent epileptics) mainly to classmates' fear of seizures and to the hostility of classmates' parents after the pupil had a grand mal seizure in school. Teachers had usually not learned how to manage either seizures in the classroom or the problems of pupils with epilepsy.
Epilepsia 1976 Dec
PMID:Record in grade school of pupils with epilepsy: an epidemiological study. 82 93

68 cases of alcohol embryopathy are reported. The main symptoms are intrauterine and postnatal growth retardation (91%), microcephaly (87 per cent), psychomotor and mental retardation (84 per cent) and a typical craniofacial dysmorphism. Other malformations are frequently found such as cardiac defects (31 per cent), anomalies of joints (23 per cent) and genitalia (50 per cent). There is a marked variation in the intensity of the malformations. Taking into account the extent of the craniofacial dysmorphism and the cerebral damage, a classification into three types (I-111) of alcohol embryopathy is proposed. That ethanol has a teratogenic effect seems to be confirmed. The mother's clinical history suggests that the quantity of alcohol consumed has no marked influence on birth weight, length of gestation and severity of the symptoms. Possibly a defective ethanol metabolism in the severely affected mothers may account for the dysplasias.
MMW Munch Med Wochenschr 1976 Dec 10
PMID:[Clinical aspects of pathogenesis of alcohol embryopathy (author's transl)]. 82 93

The presence of a growth abnormality may be documented by determination of growth velocity, calculation of the upper segment/lower segment ratio or the AF/AT ratio, and measurement of head circumference. Important considerations in differential diagnosis of specific malformation syndromes are birth weight, limb and truck alterations, head size, physical features, and presence or absence of mental retardation. Additional clinical measurements, such as measurement of chest circumference and of finger and hand length, may be useful in selected cases. These data, combined with historical information, can indicate a specific diagnosis and facilitate the choice of confirmatory laboratory studies.
Postgrad Med 1977 Dec
PMID:Growth abnormalities in genetic syndromes. 92 47

A common form of chondrodysplasia punctata has been defined by characteristic clinical and radiologic features in 23 patients seen in Melbourne. The patients presented during infancy because of failure to thrive, apparent mental retardation, and/or unusual appearance. The typical facies is almost diagnostic, and the diagnosis is completed by finding punctate calcification in the calcaneum in lateral radiographs of the feet, and sometimes in other sites. Growth and developmental progress improved during childhood and the final outcome seems likely to comprise low normal height and intelligence with persistence of typical facies. Mild cases probably pass unrecognized at present. Seventeen patients were male. Paternal age was significantly increased; however, family data did not support a genetic cause. Illnesses during pregnancy were unusually frequent, and anticonvulsants taken during pregnancy may have had an etiologic role in some patients.
J Pediatr 1976 Dec
PMID:Chondrodysplasia punctata-23 cases of a mild and relatively common variety. 99 17

Amino acids analysis were made on serum and cerebrospinal fluid samples of a Japanese 5-month-old infant suffering from irritability and mental retardation noticed at 2 months of age. Excessive amounts of branched-chain amino acids and of keto acids were detected in those samples and the large quantity of keto acids was found in urine with a qualitative 2,4-dinitro-phenyl-hydrazin test and with quantitative estimation. When thiamine hydrochloride (100 mg/day) was administered orally for 7 days to the patient fed with the cow's milk formula containing 2.1 gm/dl milk protein, there was no improvement of the branched-chain amino acidemia. Urinary keto acids, however, showed a marked decrease 7 days after the administration of thiamine hydrochloride. An overnight fast for 13 h resulted in normoglycemia. There was found no difference of blood L-lencine level between both parents and normal infants to whom L-leucine was loaded. The relation between decarboxylase activity for keto acids of branched-chain amino acids and thiamine hydrochloride was studied clinically, in the present communication.
Eur J Pediatr 1976 Dec 09
PMID:Mild variant of maple syrup urine disease. 100 26

Mannosidosis is a partially defined disorder of glycoprotein metabolism; less than 20 cases have been reported in the literature. In this work, a longitudinal study of five new patients is presented in an attempt to delineate the phenotype and clinical course of this unusual storage disease. The data on our patients and those in the literature indicate that people with mannosidosis appear normal at birth and that their typical phenotype develops by two years of age. This is characterized by a distinctive coarse facies and dysostosis multiplex. Although recurrent infections, hearing loss and mental retardation occur, the course in this storage disorder generally is stable and is compatible with adult life. The diagnosis is confirmed by the presence of a deficiency in alpha-D-mannosidase activity in leukocytes or fibroblasts, by the presence of vacuolated lymphocytes in peripheral blood and foam cells in bone marrow, and an increased excretion of mannose-rich oligosaccharides in urine.
Am J Med 1976 Dec
PMID:Clinical manifestations of mannosidosis--a longitudinal study. 100 71

To study the distribution of the skin involvement in the cutis verticis gyrata and mental retardation (CVG-MR) syndrome skin thickness was determined radiographically on the flexor aspect of the forearm of ten patients with this syndrome. The skin of patients was thicker than that of normal controls but the difference was quite significant (1.4 +/- 0.4 mm versus 1.1 +/- 0.2 mm; p less than 0.05). When the analysis was applied to males only, the difference was statistically significant (1.5 +/- 0.3 versus 1.1 +/- 0.2 mm; p less than 0.01). There was no difference in skin thickness between the primary and miscellaneous forms of the syndrome. The findings suggest generalised skin involvement in the CVG-MR syndrome.
J Ment Defic Res 1976 Dec
PMID:Skin thickness in cutis verticis gyrata and mental retardation syndrome. 101 Dec 53


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