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

To date, a total of eight cases of the Turner-mongolism polysyndrome have been recognized. The clinical manifestations included retarded growth (resulting in a small and infantile appearance), with shield-like chest, poorly developed breasts, absent body hair, brachycephaly, short neck with foldings and low hairline, oblique eyes with epicanthal folds, squat nose, scrotal or normal tongue, abnormal hard palate (high or cleft), short hands and feet, frequent cubitis valgus, normal clitoris (may be either hypoplastic or peniform), mental retardation, and the XO/G+ karyotype, mosaic for XO in most instances. At this time, a single cause for all cases of the double aneuploidy is not known.
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PMID:Turner-mongolism polysyndrome. Review of the first eight known cases. 12 53

Hepatitis-Associated (Australia) Antigen (HAA) was detected in 13 (5.8%) of 223 patients with Down's syndrome and in 14 (3.7%) of 378 patients with other forms of mental retardation. The frequency of HAA was 2.4 per cent in 127 noninstitutionalized patients with Down's syndrome, and 10.4 per cent in 96 institutionalized patients. The frequency of HAA with Down's syndrome was lower on the average in Japan than in the United States or Germany. HAA was detected in one (1.3%) of 78 mothers of infants with Down's syndrome. Our study suggests that maternal exposure to HAA, as reflected by the presence of either HAA or anti-HAA, was not associated with the subsequent birth of an infant with Down's syndrome.
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PMID:Hepatitis-associated (Australia) antigen and Down's syndrome. 12 83

The authors studied the clinical features in 19 patients with the mosaic variety of Down's disease and 63 patients with trisomia in relation to the 21st chromosome. It was demonstrated that mild forms of mental retardation are mainly seen in mosaicism rather than in the trisome variety, although severe forms of retardation may be seen in the first group as well. A full correlation between the severity of mental retardation and the % of the aneuploid cell content in the peripheral blood was not always observed.
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PMID:[Clinical characteristics of the mosaic variant of Down's disease]. 12 65

Data obtained concerning Hepatitis B as a possible couse of Down's syndrome, neonatal hepatitis, and the occurrence of Hepatitis A and B in institutionalized Down's syndrome and matched non-Down's syndrome retarded patients was summarized. The results of our studies indicated that Hepatitis B infection during pregnancy was not related to the genetic changes associated with Down's syndrome. It was further indicated that in institutionalized patients the incidence of Hepatitis B infection in both Down's syndrome and other mentally retarded patients was similar. Within the institition we studied, the incidence of Hepatitis B varied among wards. This ward variation seemed to be related to age at time of institutionalization and degree of mental retardation. Those patients with most retardation and those institutionalized at an early age were placed on wards with highest incidence of Hepatitis B antigenemia.
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PMID:Hepatitis and Down's syndrome. 12 5

698 children below age sixteen years with severe mental handicap (below IQ50) who were admitted to hospital between 1956 and 1959 were surveyed for genetic prognosis. They were divided into 23.7% ascribed primarily to environmental factors, 50.9% unclassified aetiologically, 16.2% of Down's syndrome, 5.3% other genetic syndromes and 3.9% with congenital hydrocephalus. The incidence of a similar degree of mental retardation among the sibs of 660 whose families were traced, was 1.1% in the "environmental" group; 4.7% for the unclassified; 1.7% for Down's syndrome, 11.5% for other genetic syndromes and 4.3% for hydrocephalus with spina bifida. There were no affected sibs of the uncomplicated cases of congenital hydrocephalus. This survey underlines the fact that a high proportion of cases of mental handicap remain without aetiological diagnosis. It emphasises the value of such a diagnosis for genetic counselling. Advice given depends on the circumstances of the particular case which requires a detailed social history and sympathetic rapport by members of the team as well as appropriate clinical expertise (Kirman, 1971, 1972). When families with similarly affected new relative or previous severely mentally handicapped sibs are set aside, the recurrent risk for unclassified cases is reduced to three per cent.
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PMID:Genetic prognosis in severe mental handicap. 12 70

This paper examines the actiological basis of the severer grades of mental retardation in 1,000 individuals attending an outpatient clinic. It was found it was possible to make a suggested diagnosis in 78% of cases. These fell into broad aetiological groups: genetically determined, 25%: early prenatal abomalies, 18%: perinatal damage, 17% prenatal and postnatal infections, 15%; cultural disintegration, 3%. The changing pattern of incidence and the possibilities of prevention are discussed for each group.
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PMID:An aetiological study of 1,000 patients with an I.Q. assessment below 51. 13 May 31

This article is not about specific conditions such as cerebral palsy, or deafness, or mental retardation, it is about every handicapped child; that is every child whose development and life fulfillment are restricted and who requires help to overcome or to reduce the effects of his handicaps. The picture and principles described below apply to all handicapped children whatever the nature of their basic disorder.
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PMID:The handicapped child. 13 Sep 96

The neuronal organization of the motor cortex of a 19-month old child with Down's syndrome (mongolism) has been studied with the rapid Golgi method. This congenital syndrome, also known as 21 Trisomy is caused by a chromosomal abnormality consisting of the presence of an extra chromosome in the group 21. Various structural abnormalities have been found in the dendritic spines (postsynaptic structures) of the pyramidal neurons of the motor cortex of this child. The axo-spinous synapses of these neurons are considered to be altered by these spine abnormalities. In addition, a peculiar form of intrinsic vacuolar change affecting the dendrites and scattered neuronal fragmentation and necrosis have also been found. At least three different types of abnormality involving the spines--(the unusually long spine, the very short spine and a reduction in the number of spines)--are recognized among the pyramidal cells of the motor cortex. It is postulated herein: that a basic anomaly, possibly related to the genetic disorder affects primarily some cortical neurons which undergo progressive degenerative changes terminating in cell fragmentation and death. The different spine abnormalities are considered to represent various developmental stages of the common genetic anomaly. These changes might be structural correlates of the motor incoordination and mental retardation which are characteristic of this genetic disorder, but, final conclusions should await the investigation of other cases with this or similar methods capable of demonstrating the normal as well as the abnormal structural organization of the human cerebral cortex.
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PMID:Pyramidal cell abnormalities in the motor cortex of a child with Down's syndrome. A Golgi study. 13 10

An abnormal chromosome 21 is reported in a child with a phenotype strongly reminiscent of trisomy 21 syndrome. It is shown to result from duplication of the segment 21q21 leads to 21q22.2. Comparison of the phenotype with that of other partial and total trisomics shows that the characteristic features of the trisomy 21 syndrome (mongolism), the mental retardation in particular - is due to trisomy 21q22.2 and perhaps 21q22.2.
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PMID:[Partial trisomy 21 (21q21 - 21q22.2)]. 13 30

The training of medical students in the subject of mental retardation is important in broadening the physician's role in dealing with chronic disability. A competency-based training model is presented which specifies competencies, achievement methods, and evaluation procedures for a clerkship. The focus for training is on developing practical skills and a positive orientation toward developmental problems. Evaluative measures for 12 students rotating through the clerkship showed positive knowledge and attitude changes. Competency-based training is recommended as a model for preparing physicians to serve as advocates and resources for persons with chronic conditions.
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PMID:Child development and disability: competency-based clerkship. 13 33


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