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

Chromosome abnormalities with recognizable clinical manifestations including mental retardation, primary infertility or primary amenorrhea of unknown etiology, abnormal sex differentiation and abnormal sex development were surveyed in the general population of Sichuan. The results showed that the prevalence of chromosome diseases in Sichuan was 31.5 per 100,000 of the general population with almost equal frequencies for autosomal chromosome and sex chromosome diseases. The most frequent autosomal chromosome disease was Down syndrome. The prevalence was 14.2 per 100,000 for the total population, and there should therefore be 154,000 cases of Down syndrome in the whole of China with its population of 1,100 million people. The most frequent sex chromosome diseases were Turner syndrome and Klinefelter syndrome. The prevalences were 14.3 and 14.1 per 100,000 for females and males, respectively. The majority of autosomal chromosome diseases clustered in the younger age groups, while the highest detection rate of sex chromosome diseases was found in the age group of 25-35, and thereafter it decreased with age. The age distribution of the cases indicates that both autosomal and sex chromosome diseases reduce the lifespan of patients.
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PMID:The prevalence of chromosome diseases in the general population of Sichuan, China. 201 98

The dictator Ceaucescu came to power in Romania in 1965, by which time the birth rate had decreased from 25 children/1000 fertile women in 1955 to 15.6/1000. Under a 1966 law, induced abortion was allowed only for women 45, for those with 4 or more children, or in life-threatening situations. IUDs, condoms, and spermicides were regulated to the black market. Pregnancies were registered, and women up to age 5 were subjected to a compulsory monthly gynecological examination at their workplace. The doctors' pay depended on the fulfillment of the prescribed monthly birth plan. Women aged 20-30 were given quarterly pregnancy tests whose outcome was checked by a regional demographic committee. Illegal induced abortion was punished with up to 12 years of imprisonment, and self-induced abortion was punished by 6 months to 2 years of prison. In 1984, the goal was set to increase the birth rate to 20/1000 to attain a population of 30 million by the year 2000. Instead the 1967 rate of 27.4/1000 dropped to 14.3/1000 by 1983. Maternal mortality increased from 86/100,000 live births in 1966 to 140 in 1981 and 150 in 1984, mostly abortion-related. In 1988, 519 maternal deaths occurred for 380,000 births (505 had to do with abortion). In 1985, infant mortality was 25.6/1000 live births. The premature birth rate was 16% in Bucharest in 1974 vs. 5-8% in the rest of Europe. 13,000 children (1500 in Bucharest) living in shelters maintained by the state were available for adoption for hard currency in Belgium, France, Israel, and Italy; the number of adoptions increased. Down's syndrome and mental retardation were prevalence among them.
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PMID:[Catastrophic results of the restrictive population policy in Romania]. 204 67

In 1983-88 period, 206 subjects with a average age of 9 years and 6 months, referred [correction of envoied] to our service for learning disabilities, have been submitted to neuropsychiatric visit with a psychometric evaluation, I.Q. included, by which a neuropsychological diagnosis has been expressed. The distribution curves of I.Q. of different diagnostic groups (neurosis, psychosis, specific learning disability with and without sociocultural deprivation, central neuromotor damage, psychomotor delay, Down syndrome, mental retardation) have been examined. The analysis shows that only subjects with central neuromotor damage, psychomotor delay, Down syndrome, mental retardation have an I.Q. less than or equal to 70. The anamnesis and clinical evaluation consent to assert an "organic" etiopathogenesis in 9 of 20 subjects with mental retardation. Therefore for diagnostic evaluation of children with learning disabilities seems useful to perform always an I.Q. and, when I.Q. less than or equal to 70, to execute an instrumental examination to exclude an "organic" etiopathogenesis.
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PMID:[The diagnostic value of the intelligence quotient in learning disabilities]. 207 99

Neurofibromatosis (NF), also known as von Recklinghausen's disease, is a prevalent genetic disorder--as common as cystic fibrosis and Down's syndrome and twice as prevalent as muscular dystrophy; it occurs in approximately one of 3000 live births. NF often involves the eyes and visual pathways; many NF patients first present early in life because of ocular complaints. But, because mental retardation can be a complication of the disease, such patients are difficult to examine and, as a result, the disease is sometimes not recognized. The purpose of this paper is to provide an overview of the condition along with a case report of an eight year old child with NF.
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PMID:Clinical review of neurofibromatosis. 211 55

Quantitative studies of brain morphology in a group of subjects with Williams syndrome revealed a distinctive pattern of dysmorphology unlike that observed in another form of mental retardation. Down syndrome. Reduced cerebral size but normal cerebellar size was observed in Williams syndrome, in contrast to reductions in both brain components in Down syndrome. Examination of cerebellar vermal morphology suggested significantly increased area of neocerebellar vermal lobules in Williams syndrome, with low-normal size in the paleocerebellar vermal lobules. Thus, a highly selective effect on brain development appears to accompany Williams syndrome, with some brain subsystems, possibly later-developing ones, relatively spared.
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PMID:Anomalous brain morphology on magnetic resonance images in Williams syndrome and Down syndrome. 213 74

The ability to comprehend syntactically ordered sequence by Down's syndrome adults and adults with mental retardation of no specific aetiology was studied. Both samples exhibited patterns of comprehension that resembled those of children who are not mentally retarded. However, the Down's syndrome individuals had significantly more difficulty when sequence was indicated by syntax with no supporting extralinguistic context. The Down's syndrome adults appeared to be arrested at an earlier stage of development than the other mentally retarded adults.
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PMID:Comprehension of syntactically indicated sequence by Down's syndrome and other mentally retarded adults. 214 Apr 15

Beginning with an overview of the complexities and current thinking with respect to the non-invasive behavioural technique of dichotic stimulation as it relates to hemispheric lateralization, the present paper examines the findings for dichotic stimulation in the area of mental retardation. A survey of the extant literature reveals that the application of dichotic stimulation with the mentally retarded has been relatively rare. However, given the paucity of studies, three conclusions can be drawn. First, when retarded subjects (excluding Down syndrome individuals) are compared to nonretarded subjects matched for mental age (MA), the ear asymmetries are invariably in the expected direction for the type of stimulus employed, however, the magnitude is variable. Second, under dichotic monitoring mentally retarded subjects (inclusive of Down syndrome individuals) demonstrate the same pattern of intrusion errors from the unattended right ear as do non-mentally retarded subjects matched for MA. Third, a majority of the dichotic stimulation studies have focused upon the "atypical" speech lateralization of Down syndrome individuals. The dichotic listening data are equivocal regarding the lateralization of speech in these individuals. However, there are two data sets that argue against their right hemispheric lateralization for speech. The first examines the intrusion errors demonstrated by Down syndrome individuals on dichotic monitoring tasks and the second examines the performance of Down syndrome subjects employing the dual-task interference paradigm.
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PMID:Dichotic stimulation and mental retardation. 214 94

Down syndrome (DS) is a major cause of mental retardation and heart disease. Although it is usually caused by the presence of an extra chromosome 21, a subset of the diagnostic features may be caused by the presence of only band 21q22. We now present evidence that significantly narrows the chromosomal region responsible for several of the phenotypic features of DS. We report a molecular and cytogenetic analysis of a three-generation family containing four individuals with clinical DS as manifested by the characteristic facial appearance, endocardial cushion defect, mental retardation, and probably dermatoglyphic changes. Autoradiograms of quantitative Southern blots of DNAs from two affected sisters, their carrier father, and a normal control were analyzed after hybridization with two to six unique DNA sequences regionally mapped on chromosome 21. These include cDNA probes for the genes for CuZn-superoxide dismutase (SOD1) mapping in 21q22.1 and for the amyloid precursor protein (APP) mapping in 21q11.2-21.05, in addition to six probes for single-copy sequences: D21S46 in 21q11.2-21.05, D21S47 and SF57 in 21q22.1-22.3, and D21S39, D21S42, and D21S43 in 21q22.3. All sequences located in 21q22.3 were present in three copies in the affected individuals, whereas those located proximal to this region were present in only two copies. In the carrier father, all DNA sequences were present in only two copies. Cytogenetic analysis of affected individuals employing R and G banding of prometaphase preparations combined with in situ hybridization revealed a translocation of the region from very distal 21q22.1 to 21qter to chromosome 4q. Except for a possible phenotypic contribution from the deletion of chromosome band 4q35, these data provide a molecular definition of the minimal region of chromosome 21 which, when duplicated, generates the facial features, heart defect, a component of the mental retardation, and probably several of the dermatoglyphic changes of DS. This region may include parts of bands 21q22.2 and 21q22.3, but it must exclude the genes S0D1 and APP and most of band 21q22.1, specifically the region defined by S0D1, SF57 and D21S47.
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PMID:Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. 214 53

Down syndrome is the most common cause of mental retardation in children. The children need opportunities to become important members of their families. The preschool years are an excellent time for the children and family to learn about the condition and to establish behaviors that will optimize opportunities for the children to reach their maximum potential. Examples of nursing interventions based on developmental periods are provided.
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PMID:Down syndrome: nursing interventions newborn through preschool age years. 214 45

In trisomy 21, pathogenesis of mental retardation is still poorly understood although the knowledge of the genic content of chromosome 21 is steadily increasing. Short of discovering how to silence selectively one of the 3 chromosomes 21, no rational medication can be envisaged before pathogenesis has been unraveled, at least partially. A biochemical scheme of impairment of mental efficiency is presented. Secondarily, the possible deleterious effects of a given gene overdose are discussed. Cu/Zn SOD, cystathionine beta synthase, S 100 beta protein, phosphofructokinase, purine synthesis and adenosine pharmacology, thyroid disturbance, and elevated TSH with low rT3 as well as biopterine metabolism interferences are reviewed. It is observed that the metabolic paths controlled by these genes, although unrelated at first glance, are in fact tightly related by their effects, just as if synteny was in some way related to biochemical cooperation or mutually controlled regulation. Experiments in vitro have demonstrated a peculiar sensitivity of trisomic 21 lymphocytes to methotrexate. From this starting point, systematic research of special sensitivities has begun. Clinical observations and relevant statistical methods allow study of the speed of mental development under various medications. The interest of regulating thyroid metabolism, when needed, is exemplified. Reequilibration of monocarbon metabolism is discussed and the seemingly favourable effect of folinic acid medication in pseudo-Alzheimer complication is presented.
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PMID:Pathogenesis of mental deficiency in trisomy 21. 214 47


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