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

Mucolipidosis II is a severe inherited lysosomal storage disease characterized by profound psychomotor retardation, severe Hurler-like skeletal changes and normal urinary mucopolysaccharide excretion. Mucolipidosis II is a related disorder distinguished by its milder course, milder to absent mental retardation and survival to adult life. Cultivated fibroblasts from patients with both of these disorders display large inclusions on phase microscopy and reduced levels of many acid hydrolases. However, culture medium fibroblasts out the body fluids of affected patients show enormously elevated levels of these hydrolases. The lysosomal enzyme activities in serum, leukocytes, fibroblasts extracts and culture medium from seven patients with mucolipidosis II are similar to those found in four cases of mucolipidosis III. The findings of excessive excretion of sialyl-oligosaccharide in urine and of increased level of sialic acid compounds in cultured fibroblasts associated with a sialidase deficiency in leukocytes, fibroblasts and serum are discussed.
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PMID:[Mucolipidosis. biologic characteristics (author's transl)]. 11 47

The unusual finding of an abnormal seasonal distribution of schizophrenic births, showing an excess of 10% in the winter or spring months and an equal deficit in the summer or autumn months, cannot be explained by artefacts. It has not yet been established whether the finding is specific to schizophrenia. We observed an excess of schizophrenic births of some 10% in March to May, significant at the 5% level, and a deficit of approximately the same size in June to August on the birth data of first-admission patients with the clinical diagnosis of schizophrenia. The data, obtained from the Mannheim Psychiatric Case Register, were compared with those of the Mannheim population and a control group matched by birth year and sex. The total population of mentally retarded children aged 7 to 16 years from the Mannheim population showed an excess of some 20% in April to June and an equal deficit in the last two quarters of the year, compared with the Mannheim population of the same birth years. The finding was not significant, but allowance must be made for the low case number of 415. We also compared 3409 first-admission patients with depressive syndromes (ICD 296 and 300.4) and 5615 first-admission patients with the diagnosis of "neurosis and personality disorders" (ICD 300-302, except 300.4, and 305-309) from the Mannheim Case Register with a control population and a parallel control group. Depressed males showed an excess of births in March to May, which was significant at the 1% level; the birth peak for females was smaller and not significant. The same findings were obtained for the category of neurosis and personality disorders, i.e. an excess of about 10% in March to May for males, significant at the 1% level, and a non-significant excess for females. Our findings are awaiting replication. Causal explanations will be discussed with great reservation. The procreational hypothesis, assuming those factors that lead to an equidirectional seasonal pattern of births with a slight deviation from the average of a year in the general population, to be reinforced in the disease categories mentioned, is regarded as the most simple and plausible explanation. It is based on the assumption that some of the parents of individuals suffering from schizophrenia, mental retardation or probably also some other mental disorders running from generation to generation, have a higher threshold in partner-seeking behaviour, which is overcome more easily in the summer months with the consequence of increased pregnancies.
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PMID:Abnormal seasonality of schizophrenic births. A specific finding? 367 92

Our investigation was concerned with 25 children, 10-13 years old, with an IQ 50-70 ("mild mental retardation," following the ICD). Among these, 14 attended a school for the mentally retarded and 11 one for the learning disabled. A control group was recruited, matched in age, sex and social class. The unipolar 8-channel record of EEG at rest was subjected to blind clinical rating, and a computerized analysis (broad band spectral parameters delta, theta, alpha 1, alpha 2, beta 1, beta 2). A significantly higher frequency of paroxysms was found by the clinical rating. It also allowed the diagnosis of a maturational lag with respect to the items "maturity" and "prominence of alpha rhythm"). Spectral parameters differentiated the two matched groups particularly in bands and leads of developmental relevance (theta, delta, and fronto-central beta in absolute power and theta, delta occipitally and alpha 2, with the exception of frontal leads for relative power).: As is well known, the mentally retarded constitute a heterogeneous group: this could also be verified with respect to EEG activity for the segment of mild mental retardation. A multivariate classification by nonmetric multidimensional scaling yielded a subgroup of 10 children deviant with respect to its overall EEG activity and a group of 15 children within the normal range. This assignment did not overlap with the assignment to the two schools. By computing ratios of broad band power in antero-posterior and symmetric-interhemispheric leads a reduced topographic differentiation was found for the experimental group in their antero-posterior distribution.
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PMID:The EEG of mildly retarded children: developmental, classificatory, and topographic aspects. 618 9

There is a deficiency of human alpha-N-acetylneuraminidase in several inherited diseases. In patients with mucolipidosis I (refs 1,2) and in adults with a variant form with out bony abnormalities and mental retardation, both also classified as sialidoses, it is the only deficient enzyme. In mucolipidosis II ('I-cell' disease) neuraminidase is one of many deficient lysosomal hydrolases and a third manifestation combines deficiency of neuraminidase and beta-galactosidase. We have investigated the genetic background of these various neuraminindase deficiencies by somatic cell hybridization and co-cultivation. The principal conclusions from work on mutant fibroblasts, reported here, are that at least three gene mutations are involved and that the combined beta-galactosidase/neuraminidase deficiency is likely to be due to defective post-translational modification of these enzymes.
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PMID:Genetic heterogeneity in human neuraminidase deficiency. 677 59

Several factors appear to impede the development of a valid taxonomy of psychopathology in children and adolescents with mental retardation. These include (a) the lack of a widely accepted definition of psychopathology in mental retardation, (b) disagreement on the nature of the relationship between mental retardation and psychopathology, and (c) insufficient evidence for the reliability and validity of current DSM or ICD systems in this population. In this article, we offer a definition of psychopathology in children with mental retardation; review concepts of the relationship between psychopathology and mental retardation; argue that in moving toward a valid taxonomy factors to be considered should include data from multivariate studies, findings related to behavior phenotypes, and diagnostic considerations with stereotypic behavior and self-injury, organic brain syndromes and pervasive developmental disorders. Finally, we outline a research strategy that may serve as a useful framework for developing a valid taxonomy of psychopathology in this population.
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PMID:Issues in the taxonomy of psychopathology in mental retardation. 755 82

In this paper nine patients with mucolipidosis II (I-cell disease) are described. They had clinical features commonly found in mucolipidosis II, including disproportionate dwarfism, coarse facial features and mental retardation. However, there was remarkable variability in age of onset, organ manifestation and radiological findings. Some had unusual clinical symptoms including pericardial effusion and profound brain atrophy. Striking differences in phenotypic expression were also seen in two affected siblings. Clinical heterogeneity is observed not only in mucolipidosis II but also in many other lysosomal storage disorders. The factors that may contribute to this clinical diversity are discussed.
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PMID:Inter- and intrafamilial variability in mucolipidosis II (I-cell disease). 762 21

Although fetal alcohol syndrome (FAS) is a major preventable cause of mental retardation in the United States (1), surveillance for this problem is subject to at least five constraints: difficulty in identifying the syndrome at birth (2); the subjective nature of the diagnosis; variability in the severity and type of conditions associated with FAS; age-specific variations in the expression of the phenotype; and the lack of specificity in the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) code for FAS. Previous studies have documented high rates of FAS among American Indians and Alaskan Natives (ANs) (3,4). To better ascertain cases of FAS in Alaska and to determine the prevalence of this problem among ANs, the Alaska Department of Health and Social Services (ADHSS), the Indian Health Service (IHS), and CDC linked and analyzed data from state sources (i.e., birth and death certificates and Medicaid claims), an IHS case file, and a private pediatric practice case file. This report summarizes the findings from this analysis and presents a preliminary minimum FAS prevalence rate for ANs.
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PMID:Linking multiple data sources in fetal alcohol syndrome surveillance--Alaska. 847 26

The Berlin Deinstitutionalization Study investigates effects of the planned reduction of psychiatric hospital beds in Berlin prospectively. In the beginning cross-sectional survey all adult psychiatric patients from two and a half districts, who had been hospitalized for more than 6 months, were examined. The total sample was 422 patients. Treatment situation and needs for nursing care are reported. The primary diagnosis according to ICD-10 was organic disorder (incl. Korsakov's syndrome) in 70 patients and mental retardation in 61. Psychopathology and social disabilities were examined in 237 of the remaining 291 patients. On average, psychopathology and disabilities were moderate. A cluster analysis classified three groups. When patients should be discharged, special protective measures might be necessary only for the two smaller groups (together 31%).
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PMID:[Clinical characteristics of long-term hospitalized patients. Part I of the Berlin Deinstitutionalization Study]. 885 Dec 26

The prevalence of Developmental Coordination Disorder (DCD) among 6- to 9- year-old Singaporean primary school children was studied from a random sample (N = 427) through a two-step identification procedure contained within Henderson's and Sugden's Movement Assessment Battery for Children. The prevalence rate from this two step procedure was 4% when the first step included the bottom 15% of the random sample. The two-step procedure moves towards fulfilling the diagnostic criteria for DCD set out by the American Psychiatric Association (DSM-IV) and the World Health Organisation (ICD-10) of a serious motor impairment in the development of motor coordination and significant interference with the activities of daily living not due in children to mental retardation or a known physical disability.
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PMID:A two-step procedure for the identification of children with developmental co-ordination disorder in Singapore. 897 95

The controversy regarding the exact nature of the relationship between psychopathology and epilepsy continues. We studied the rate of mental disorder in 150 adults with mental retardation and epilepsy among the residents of a health district of the United Kingdom who lived either in institutions or in the community, and compared them with an age-, sex-, and IQ-matched nonepileptic adult mentally retarded population from the same institution and community. Mental disorder was assessed under three headings, namely severe maladaptive behavior, psychiatric illness according to ICD-9 criteria, and personality disorder. Sixty-five percent of the whole cohort had a diagnosis of mental disorder, and 55% showed severe maladaptive behavior. No significant difference in the rate of mental disorder emerged between the epileptic and nonepileptic groups, although the institutionalized subjects as opposed to the community-based subjects and severely mentally retarded adults compared with the mild to moderately mentally retarded adults showed a significantly higher rate of mental disorder in general and severe maladaptive behavior in particular. We hypothesized that underlying brain damage rather than epilepsy per se is a stronger determinant of psychopathology in the studied patient group.
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PMID:Mental disorder in adults with mental retardation and epilepsy. 915 75


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