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

Disparities in proportions of competitive job placements and provision of vocational rehabilitation services by level of mental retardation were identified for 28,565 individuals. Chi-square results reveal that consumers with mild mental retardation are significantly more likely to achieve competitive jobs compared to those with more severe levels. Logistic regression indicated that the odds of achieving a competitive job for consumers receiving job placement services, business/vocational training, and counseling were nearly two times that of individuals not receiving such services. Findings suggest that a significantly lower proportion of these services were provided to consumers with severe/profound mental retardation. Implications of findings for service, research, and policy are discussed.
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PMID:Ex-post-facto analysis of competitive employment outcomes for individuals with mental retardation: national perspective. 1523 Jun 53

Fear of dental procedures deters many individuals with mental retardation from accepting dental treatment. This study was conducted to assess the effectiveness of two procedures, in vivo desensitization and video modeling, for increasing compliance with dental procedures in participants with severe or profound mental retardation. Desensitization increased compliance for all 5 participants, whereas video modeling increased compliance for only 1 of 3 participants.
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PMID:An evaluation of in vivo desensitization and video modeling to increase compliance with dental procedures in persons with mental retardation. 1529 44

The eugenics era (c. 1900-1930) produced a strong desire among mental retardation professionals to recognize and control "the feeble-minded." Some eugenicists believed it was possible to classify individuals visually by learning to recognize what they believed to be observable characteristics of idiocy and imbecility. In this paper I used qualitative methods to examine the visual classification scheme developed by Martin Barr and conclude that most of this classification scheme is a social construction that was reliant on modes of presentation, such as clothing and photographic style, which had very little to do with any inherent feeble-mindedness.
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PMID:Believing is seeing: visual conventions in Barr's classification of the "feeble-minded". 1533 57

The clinical phenotype of patients with ring chromosome 22 includes mental retardation with severe language impairment, hypotonia, and dysmorphic facial features. In recent years an increasing number of patients with microscopic as well as cryptic terminal deletion involving band 22q13 have been described and their phenotype shows clinical features overlapping with patients with ring chromosome 22. Loss of DNA in the 22q13.3 region may lead to a clinically recognizable syndrome named "22q13.3 deletion syndrome." We report a patient with a ring chromosome 22 who has hypotonia, profound mental retardation, language impairment, dysmorphic features, and behavioral disorders. To check if the critical region responsible for "22q13.3 deletion syndrome" was absent in this ring, a fluorescent in situ hybridization (FISH) analysis using a probe corresponding to the ARSA locus was performed. In our patient, only one ARSA signal could be detected, indicating that the deletion encompassed the critical 22q13.3 region. A more detailed analysis of the deletion extent then was performed using a panel of fluorescent probes located within 22q13. These experiments allowed the identification of the breakpoint between CTA-299D3 and RP5-925J7 probe, located in 22q13.32. Deletion extent could be estimated to be about 2.5 Mb, and this larger deletion may explain the severity of clinical features observed in our patient.
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PMID:Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22. 1537 17

Epilepsy is common in chromosomal abnormalities, but systematic studies are scanty. We describe an Italian sample of patients with chromosomopathies to establish epilepsy occurrence and clinical electroencephalographic (EEG) features. Forty-five patients with different types of chromosomal abnormalities were analyzed to examine different variables in patients with epilepsy (group 1) and without (group 2) and to compare the types of epilepsy in our cases with respect to a nonselected sample of Italian people with epilepsy. Epilepsy occurred in 51.1% (group 1) of cases and prevailed in autosomal abnormalities but without a statistical significance (P > .05). There was a prevalence of EEG paroxysmal abnormalities in group 1 (P < .0001); continuous spike-waves during sleep were observed in three cases. Profound mental retardation prevailed in group 1 (P < .001) and mild mental retardation in group 2 (P < .05). Generalized epilepsies prevailed significantly (P < .00001). A high-resolution karyotype should be undertaken in all patients with epilepsy presenting with mental retardation when an obvious etiology is not available.
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PMID:Epilepsy in chromosomal abnormalities: an Italian sample. 1596 27

The 1p36 deletion syndrome is a newly delineated multiple congenital anomalies/mental retardation syndrome characterized by mental retardation, growth delay, epilepsy, congenital heart defects, characteristic facial appearance, and precocious puberty. We analyzed 11 patients by fluorescence in situ hybridization (FISH) using commercially available bacterial artificial chromosome and P1-derived artificial chromosome genomic clones to define the chromosomal deletion responsible for the 1p36 deletion syndrome. Cytogenetic investigation revealed two cases with a terminal deletion of 1p36. Nine patients had an apparently normal karyotype with standard G-bands by trypsin using Giemsa (GTG), but FISH screening with the highly polymorphic genetic marker D1Z2, which is mapped to 1p36.3 and contains an unusual reiterated 40-bp variable number tandem repeat, revealed a submicroscopic deletion. All patients had severe to profound mental retardation. Based on the University of California Santa Cruz Genome Browser, we constructed a deletion map and analyzed the relationship between neurological findings and chromosomal deletions for the 11 cases. Six cases had intractable epilepsy and three had no seizures. The common deletion interval was about 1 million base pairs (Mbp) located between RP11-82D16 and RP4-785P20 (Rho guanine exchange factor (GEF) 16). The severity of clinical symptoms correlates with the size of the deletion. This is demonstrated by the 3 patients with at least 8Mbp deletions that display profound mental retardation and congenital heart defects. Although haploinsufficiency of the potassium channel beta-subunit (KCNAB2) is thought to be responsible for intractable seizures in the 1p36 deletion syndrome, this was not the case for 3 of the 11 patients in this study. Further investigation of the 1p36 region is necessary to allow identification of genes responsible for the 1p36 deletion syndrome.
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PMID:Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome. 1602 56

Previous research indicates that abnormal stereotyped movements are associated with central dopamine dysfunction and that eye-blink rate is a noninvasive, in vivo measure of dopamine function. We measured the spontaneous eye-blinking and stereotyped behavior of older adults with severe/profound mental retardation living in a state mental retardation facility. Analyses revealed that the mean eye-blink rate of the residents that engaged in stereotypy was significantly lower than the rate for residents who did not exhibit stereotypy. Moreover, the stereotypy group also demonstrated greater variability in interblink intervals. These results provide further empirical support for the involvement of dopamine in stereotyped behavior and are consistent with an emerging motor control model of stereotypy.
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PMID:Spontaneous eye-blinking and stereotyped behavior in older persons with mental retardation. 1635 42

Tuberous sclerosis complex (TSC) is a common hereditary disorder caused by mutations in either the TSC1 or TSC2 genes, and characterized by severe epilepsy, cerebral hamartomas and mental retardation. We have used rats that are heterozygous for an autosomal-dominant germline mutation in the TSC2 gene (TSC2+/- rats) to examine the consequences of TSC2 mutations for hippocampal synaptic plasticity. While basal synaptic transmission in the Schaffer collateral-CA1 synapse was not altered, paired-pulse plasticity was significantly enhanced in TSC2+/- rats (interpulse intervals 20-200 ms). Moreover, TSC2+/- rats exhibited a marked reduction of different forms of synaptic plasticity. Long-term potentiation (LTP) elicited following high-frequency tetanization of Schaffer collaterals was significantly decreased from 1.45 +/- 0.05-fold potentiation to 1.15 +/- 0.04 (measured after 60 min). This difference in LTP levels between TSC2+/- and wild-type rats also persisted in the presence of the gamma-aminobutyric acid (GABA)(A) receptor antagonist bicuculline. In addition to changed LTP, the level of long-term depression (LTD) elicited by different forms of low-frequency stimulation was significantly less in TSC2+/- rats. These results suggest that TSC2 mutations may cause hippocampal synapses to lose much of their potential for activity-dependent synaptic modification. An understanding of the underlying molecular pathways may suggest new therapeutic approaches aimed at inhibiting the development of the profound mental retardation in TSC.
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PMID:Impaired synaptic plasticity in a rat model of tuberous sclerosis. 1726 62

In 2002, the office of the U.S. surgeon general published a report detailing the discrepancies between the quality of healthcare afforded to persons with and without mental retardation. This article examines the case of a female resident of a developmental center with profound mental retardation due to Down syndrome and degenerative hip disease. Although she was in urgent need of a total hip replacement, the operation was denied or delayed by several different surgeons. Using a survey of physician attitudes, we examine several possible motivations behind the surgeons' reluctance to perform the procedure and conclude that these reasons were not appropriate in this case. Finally, we reiterate the surgeon general's call to eradicate preconceptions held in the medical community about the population of persons with mental retardation that result in similar failures to provide adequate care.
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PMID:Difficulty in securing treatment for degenerative hip disease in a patient with Down syndrome: the gap remains open. 1653 86

Research into behavior problems among individuals with mental retardation has been well developed. However, few studies have addressed the effect of multiple problem behaviors on social skills. In the present study, the authors examined the relationship between two problem behaviors, stereotypy and self-injury, and social skills among individuals with profound mental retardation. A total of 120 participants were divided into four groups based on the presence of stereotypic and self-injurious behavior. Persons with comorbid stereotypy and self-injury evinced more negative nonverbal social skills than did those with self-injury alone or no problem behaviors. In the past, researchers examined behavior problems as isolated phenomena. However, a recent shift in the conceptualization of problem behaviors has exposed the lack of research regarding the nature of social and adaptive skills in the face of multiple topographies of problem behaviors using broader conceptualizations.
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PMID:The relationship of comorbid problem behaviors to social skills in persons with profound mental retardation. 1672 27


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