Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The efficacy of the serotonin (5-HT) uptake inhibitor clomipramine in the treatment of self-injurious behavior (SIB) was tested in individuals with severe and profound mental retardation. Six of the 8 subjects who completed a double-blind, placebo-controlled crossover trial exhibited a clinically significant improvement (50% or greater reduction from placebo) in the frequency of SIB. Clomipramine treatment was also associated with improvement in SIB intensity, frequency of stereotypy and compulsions, teacher ratings of stereotypy and social withdrawal, and frequency of staff intervention required for problem behaviors. Adverse effects (seizure and tachycardia/agitation) occurred in 2 of the 8 subjects. These results represent the first controlled trial of a 5-HT uptake inhibitor in the treatment of SIB in mental retardation.
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PMID:Clomipramine treatment for self-injurious behavior of individuals with mental retardation: a double-blind comparison with placebo. 873 78

To assess the factor validity and reliability for the Japanese version of the Aberrant Behavior Checklist-Community (ABC-Community), 322 subjects with moderate to profound mental retardation (188 males and 134 females, mean age 29.79 +/- 12.45) were rated by the staff at the residential facilities in Wakayama Prefecture, Japan. Rating data were analyzed by factor analysis using the principal factoring method with iteration, followed by oblique rotation. The internal consistency was estimated by Cronbach's alpha. Of these subjects, 43 were rated twice with an interval of 4 weeks to confirm the test-retest reliability and 33 were rated by pairs of raters for interrater reliability. Forty-eight of 58 items loaded most heavily on the same factors as in the original factor solution. Coefficient alpha raged from .85 to .95 across five subscales. The test-retest reliability was high with Spearman's rank correlation coefficient ranging from .84 to .90. Although the correlation coefficients for interrater reliability tests were somewhat lower (.58 to .78), they were all statistically significant (p < .001). The Japanese version of ABC Community was comparative to the original and was useful for assessing behavior problems in Japanese persons with mental retardation.
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PMID:Factor validity and reliability for the Aberrant Behavior Checklist-Community in a Japanese population with mental retardation. 882 40

Only one missense mutation, an Ile304Asn, has been reported in the fragile X gene (FMR1). This mutation is located in the second KH domain of FMR1, and has led to the discovery of the function of the FMR1 gene product as an RNA-binding protein. The patient carrying this mutation has profound mental retardation, macroorchidism, and an "acromegalic" face with prominent supraorbital ridges, enlarged jaw, heavy brow ridges, thick lips, and a broad nose. We have studied the possible involvement of FMR1 in two maternal half-brothers with a phenotype similar to that of the patient with the Ile304Asn mutation. Both brothers had an identical number of CGG repeats in the normal size-range, and shared the same maternal Xq27 haplotype. Southern blot analysis with two overlapping FMR1 cDNA clones, spanning the total FMR1 open reading frame, showed no major deletions, insertions, or gross rearrangements. Single-strand conformation pattern (SSCP) analysis of the KH domains showed no aberrant patterns. The total open reading frame of the FMR1 gene was cloned and sequenced, but no mutation was found. Northern blot analysis showed mRNA in the normal size-range, and immunocytochemistry on individual lymphocytes indicated that FMRP, the protein product of FMR1, was present. In conclusion, it is unlikely that FMR1 plays a role in the phenotype of this patient. Other genes may be responsible for the combination of mental retardation and macroorchidism.
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PMID:Severe mental retardation and macroorchidism without mutation in the FMR1 gene. 884 93

Expansion of a polymorphic GCC-repeat at the FRAXE locus has been associated with expression of chromosome fragility at this site and cognitive impairment in some individuals previously testing negative for CGG-repeat expansion in the fragile X mental retardation-1 (FMR1) gene. To determine the frequency of FRAXE triplet repeat expansion among persons with developmental disability, 396 individuals from two institutions were studied, all of whom were negative for FMR1 repeat expansion. Clinically, there was a wide range of mental impairment, with the majority (61.1%) being severely to profoundly affected. The distribution of FRAXE GCC-repeat numbers in the study population was 5-38: 28 (5.6%) with 10-14 repeats; 366 (73.8%) with 15-19 repeats; 74 (14.9%) with 20-24 repeats; 20 (4.0%) with 25-29 repeats; and 5 (1.0%) with 30-38 repeats, with no individuals demonstrating repeat expansion. One profoundly retarded male was found to have a deletion of about 40 bp. Southern blots of HindIII-digested DNAs from individuals with > or = 26 repeats all showed normal patterns. These results suggest that FRAXE GCC-repeat expansion is not a common cause of developmental disability in institutionalized persons with mild to profound mental retardation.
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PMID:Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities. 884 96

We tested the factorial stability of the Reiss Screen for Maladaptive Behavior (Reiss, 1988a, The Reiss Screen for Maladaptive Behavior test manual). Reasonable fit was demonstrated in a geographically diverse sample of 448 individuals with mild, moderate, severe and profound mental retardation according to four measures of overall fit: RMSEA, ECVI, NNFI, and NFI. The results confirm Reiss' (1988a) factor solution of this widely used dual diagnosis (mental retardation and mental illness) screening instrument.
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PMID:The Reiss Screen for Maladaptive Behavior: confirmatory factor analysis. 940 Nov 38

Despite the acceptance of evolutionary theory in the biological and social sciences, typological thinking--the belief that individual differences diverge around an underlying type or essence--has persisted. The most egregious example is J. H. Langdon Down's "ethnological classification of idiocy," taken seriously in the field for almost 80 years after its origin in 1866. Past and present controversies over the definition of mental retardation have turned on an unacknowledged typological axis. Some contemporary research on Down syndrome indicates that the allure of typology is still an obstacle to the appreciation of individual differences and human dignity in the field of mental retardation.
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PMID:The problem of typological thinking in mental retardation. 942 74

Risperidone has proven efficacy with reduced likelihood of causing extrapyramidal symptoms in the treatment of schizophrenia. Initial work suggests its utility in the management of aggression and self injury in patients with mental retardation. The use of risperidone in eight adult patients with moderate to profound mental retardation is described. Risperidone in these individuals was associated with significant reduction in aggression and self injurious behavior. Side effects were primarily those of sedation and restlessness. These cases illustrate the possible utility of risperidone in the treatment of aggression and self injury in adult patients with moderate to profound mental retardation.
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PMID:Risperidone for aggression and self-injurious behavior in adults with mental retardation. 965 34

Sleep patterns of people with mental retardation have received little research attention. This is an important gap in knowledge because understanding the relation between sleep and wakefulness may be critical to care provision. Descriptive sleep information on 28 people with severe or profound mental retardation and epilepsy was presented here. Sleep EEG data, studied both conventionally and by means of a neural network-based sleep analysis system suggest atypical sleep stages with significant depletion of REM sleep and a predominance of "indiscriminate" non-REM sleep. Sleep diaries completed by caregivers reveal lengthy sleep period times, especially among those with profound mental retardation. Possible explanations for these results and their implications were discussed.
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PMID:Sleep studies of adults with severe or profound mental retardation and epilepsy. 967 30

Paternal or maternal deletions in the 15q11.2-q13 region are known to result in Prader-Willi syndrome (PWS) or Angelman syndrome (AS), respectively. Maternal duplications in 15q11.2-q13 have been found in patients with autism. A population of adults with moderate to profound mental retardation was studied to examine the usefulness of PCR based molecular methods in screening for proximal chromosome 15 abnormalities. Two hundred and eighty-five subjects were initially screened at five microsatellite markers with average heterozygosity values of 0.74 (range 0.54-0.82). Of these subjects, four had a single allele at all five loci, suggestive of a deletion or uniparental isodisomy. The four samples were further screened with additional markers located within 15q11.2-q13 as well as markers telomeric to this region. One subject had uniparental disomy (UPD) and three subjects had a deletion. To determine the parental origin of the 15q11-q13 region containing the single haplotype, samples were analysed with a newly developed methylation specific PCR technique at the SNRPN locus. Each of the four subjects showed presence of the paternal allele and absence of the maternal allele. All cases had a phenotype consistent with Angelman syndrome as expected for the level of mental retardation, but the subject with UPD was distinct from the other subjects with an absence of a history of seizures and presence of bilateral undescended testes and Parkinsonism. Although Angelman syndrome has an estimated population prevalence of 0.008%, at least 1.4% of the moderately to profoundly mentally retarded subjects screened were found to have Angelman syndrome.
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PMID:Molecular screening for proximal 15q abnormalities in a mentally retarded population. 967 96

We examined aggression and psychopathology in persons with severe or profound mental retardation. Most aggressive episodes were directed toward other clients, and ratings of aggression were positively correlated with self-injury, stereotypic behavior, and being ambulatory. In a linear regression analysis of psychopathological correlates, aggression was most consistently predicted by dependent personality and psychosis. To better describe the construct of aggression, we also developed an Aggression-psychopathology scale. Persons with mental retardation and aggression were more likely to be impulsive, attention-seeking, dependent, socially inadequate, and anxious. Intensive efforts to modify the psychopathological correlates of aggression may improve treatment planning and outcome.
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PMID:Aggression and psychopathology in persons with severe or profound mental retardation. 977 Feb 54


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