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PubMed1990

Changes in adaptive behavior of older adults with mental retardation following deinstitutionalization.

Changes in adaptive functioning of 32 older adults with mental retardation following deinstitutionalization were assessed. The Adaptive Behavior Scale was administered at two times (separated by 1.5 years) for these adults, who were transferred from a state-operated institution to an ICF-MR facility. An overall increase in both adaptive and maladaptive behavior was found. In addition, female residents and those with moderate/mild levels of retardation had higher levels of adaptive functioning than did males and those with severe levels of retardation. These findings extend previous research by focusing on the older segment of the mentally retarded population.

Adaptation, Psychological↗
PubMed1993

Sex education programs for people with mental retardation.

Data relating to sexual knowledge, needs, and experience of people with mental retardation and attitudes of caregivers and parents were evaluated. Results suggest that individuals with mental retardation have an unmet need for sexual knowledge, which has occurred, in part, because of the largely negative attitudes of caregivers and parents about the sexuality of these individuals. Their sexuality is either ignored or perceived as a problem. Available sex education programs are generally concerned with providing information on a limited range of subjects, with no assessments of individuals' needs or of reliability, validity, or effectiveness of programs. Adequate sex education must be provided to protect the rights of this population.

Civil Rights↗
PubMed1997

[The fragile X chromosome syndrome: DNA analysis in families with familial occurrence of mental retardation].

The fragile X syndrome, the most common form of inherited mental retardation, is characterized by unique genetic mechanisms, which include amplification of a CGG repeat and abnormal DNA methylation. Direct DNA analysis of fragile X mutations has already shown its clear superiority for postnatal and prenatal diagnosis of the disorder and for carrier detection. In this, paper the authors report on the results of DNA analysis in families with familial mental retardation. They present the various alternatives (probe/enzymes combinations) for Southern blot based diagnosis and protocols which gave optimal results for detection of patients segregating for fragile X syndrome. Totally, 36 members from 10 families were analyzed by Southern blotting, including 18 mentally affected patients. No CGG expansion was detected in 9 clinically affected patients of 5 families. Expansion of the CGG repeats was found in 9 clinically and cytogenetically affected males, in 5 unaffected carriers of premutation, and in 1 carrier of full mutation in the remaining 5 families. Carriers represented mothers of the patients. These results correlated with cytogenetic and clinical expression of fragile X syndrome. The application of the method for diagnosis of the disease is discussed. (Tab. 2, Fig. 3, Ref. 21.)

Blotting, Southern↗
PubMed1983

Fragile X syndrome in mildly mentally retarded children in a northern Swedish county. A prevalence study.

In an extensive etiological study of an unselected series of mildly mentally retarded children (MMR) (IQ 50-70) born 1959-1970 in a northern Swedish county, 5 of 110 boys (4.5%) and none of 61 girls had a fragile site on the distal end of the X-chromosome (Fra Xq 28). Consequently fragile X was seen in 2.9% of the total series of 171 children. In a combined series of severe and mild mental retardation, the incidence of the fragile X syndrome was calculated to be 1:3000 in the county of Västerbotten. Next to trisomy 21 the fragile X syndrome was the most common single identified cause of MMR in boys. A cytogenetic investigation using special cultural conditions and banding techniques should be performed in cases of mental retardation of unclear etiology and in possible female carriers.

Adolescent↗
PubMed2004

Assessment of seizures and related symptomatology in persons with mental retardation.

Seizures can be debilitating across a number of physical, social, occupational, and personal variables. Given the deficits in all of these areas frequently present in persons with mental retardation, effective assessment and subsequent treatment of seizures is a primary goal for individuals with both mental retardation and epilepsy. To thoroughly address the behavioral domains related to seizures in persons with mental retardation and epilepsy, areas of assessment should include seizure behavior, triggering stimuli, reinforcing consequences, and antiepileptic medication side effects. Assessment of these areas in this population often deviates from methods typically used with persons of normal intelligence. Specifically, direct behavioral observation and third-party report with structured interviews are the most viable and accessible means of assessment, and efforts to establish reliable and valid protocols have been successful in some areas. This article reviews this assessment methodology and discusses the extant issues in establishing and proliferating such approaches.

Behavior Therapy↗
PubMed2001

Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family.

Nonspecific X-linked mental retardation is a nonprogressive, genetically heterogeneous condition that affects cognitive function in the absence of other distinctive clinical manifestations. We report here linkage data on a large Pakistani family affected by a form of X-linked nonspecific mental retardation. X chromosome genotyping of family members and linkage analysis allowed the identification of a new disease locus, MRX53. The defined critical region spans approximately 15 cM between DXS1210 and DXS1047 in Xq22.2-26. A LOD score value of 3.34 at no recombination was obtained with markers DXS1072 and DXS8081.

Chromosome Mapping↗
PubMed1992

Social integration of older persons with mental retardation in residential facilities.

The findings from a study of the social integration of a national sample of 370 older persons with mental retardation were reviewed. Individuals were selected from a national sample of all facilities owned, operated, or licensed by developmental disabilities agencies having one or more persons 63 years of age or older with mental retardation (N = 235). Facilities included foster care, small group homes (3 to 15 residents), large private facilities, and large state-operated facilities. Information was obtained on resident activities and relations considered to be indicators of social integration through extensive questionnaires completed by primary caregivers. Comparisons of the differences in community integration among residents living in different types of residential facilities were presented. The relative contribution of individual and facility characteristics to the social integration of older persons with mental retardation was explored with hierarchical multiple regression analysis.

Activities of Daily Living↗
PubMed1994

Replication of a managed health care initiative for people with mental retardation living in the community.

To improve understanding of the cost-effectiveness of a managed health care program for individuals with mental retardation, we have described financing, utilization, and outcomes of the Developmental Disabilities Center at Morristown Memorial Hospital. The costs and benefits of health care coordination, a key feature of this program, were discussed. Under this model, annual, unreimbursed costs of health care coordination in 1989 averaged $668 for people with severe mental retardation. However, the total reimbursable costs of inpatient care were reduced. In addition, medical outcome data from ongoing research projects suggest that the program has been an important vehicle for improving the health of people with mental retardation in the community. The costs, revenues, and financing of this program were presented in order to assist candidate sites in the replication of this model. The role of this type of program in health care reform was discussed.

Community Mental Health Services↗
PubMed1987

Receptivity to persons with mental retardation: a study of volunteer interest.

College students (N = 78) completed a series of questionnaires dealing with their personal value systems, perceptions and attitudes concerning persons with mental retardation, volunteer experience, and attitudes and beliefs regarding volunteer work with persons with mental retardation. They were then questioned as to their interest in doing such volunteer work. Data on the students who expressed an interest in volunteer work and those who did not were compared. Results showed that the importance that students placed on certain values in their personal lives was the best predictor of volunteer interest. The importance of these findings for better understanding the nature of people's receptivity to persons with mental retardation was discussed.

Adult↗
PubMed1993

Disease profile of 400 institutionalized mentally retarded patients in Kuwait.

In this preliminary report we summarize the results of a 4-year multidisciplinary systematic, etiological clinicogenetic survey of 400 institutionalized mentally retarded patients in Kuwait. All had an intelligence quotient below 50. A constitutional disorder, as the direct cause of the mental retardation, was found in 203 patients (50.75%)): a chromosomal abnormality in 37 (9.25%), Mendelian disorders in 137 (34.25%), MCA/MR in 22 (5.55%) and CNS malformations in 7 cases (1.75%). In 157 patients (39.35%) a pre-, peri or postnatal cause was ascertained. No etiological diagnosis was detected in 40 patients (10%). A detailed analysis of the "disease profile" is given and compared with the results of previous diagnostic genetic surveys among different institutionalized mentally retarded populations in Western and developing countries.

Abnormalities, Multiple↗
PubMedDate not supplied

[The diagnosis of mental retardation in fragile X syndrome is revolutionized by molecular genetics].

The fragile X syndrome is the most common cause of inherited mental retardation. Clinical signs, which are neither specific to the syndrome nor constant, become apparent late in childhood or after puberty, making early diagnosis difficult on a clinical basis alone. The inheritance of the syndrome is peculiar for an X linked disease, since a high proportion of female carriers show a certain degree of mental retardation and "normal transmitting males" do exist. Affected males can be diagnosed by cytogenetic demonstration of the typical fragile X site but only a minority of female carriers can be identified. This makes genetic counseling difficult. In 1991, the cloning and sequencing of the target site of the mutation marked an important step towards full understanding of the peculiarities of inheritance of the fragile X syndrome. A new type of mutation has been revealed: a multistep "expansion" of a small part of a gene that takes place over several generations. A new diagnostic technique by direct genotypic analysis has been developed. With a very high sensitivity and specificity, this analysis detects affected individuals with a "full mutation" (a large "expansion" associated with abnormal methylation of the surrounding region) and individuals with a "premutation" (smaller "expansion") who do not show mental retardation but are at risk of having affected children or grand children. With the direct DNA analysis at the fragile X locus, it is now possible to diagnose easily those children affected with the syndrome and to offer adequate genetic counseling and prenatal diagnosis to female carriers in affected families.(ABSTRACT TRUNCATED AT 250 WORDS)

Chromosome Mapping↗
PubMed2006

Efficacy and tolerability of adjunctive lamotrigine for refractory epilepsy in institutional or community residents with mental retardation.

OBJECTIVE: To determine whether the efficacy and tolerability of adjunctive lamotrigine differ as a function of whether persons with mental retardation and refractory epilepsy resided in institutions or the community. RESEARCH DESIGN AND METHODS: The analysis was retrospective and employed data from a previously published, open-label study. To be eligible for enrollment, patients needed to be receiving stable regimens of up to three antiepileptic medications at enrollment and to have experienced at least two seizures per month in the 3 months prior to enrollment. The study included an Escalation Phase during which lamotrigine was titrated to a target dose, an 8-week Maintenance Phase during which doses of lamotrigine and concomitant antiepileptic drugs were maintained, and a 12-week Optimization Phase during which doses of antiepileptic drugs could be adjusted. Outcomes of interest included baseline characteristics; the percentage of persons with 25%, 50%, and 75% reductions in seizure frequency and with zero seizures; investigator-rated clinical status; and mean scores on the Habilitative Improvement Scale and the Aberrant Behavior Checklist. The small sample size did not allow for sufficient power for statistical comparisons between groups. RESULTS: Demographics and baseline clinical characteristics were similar between groups (31 institutional and 36 community residents) except institutional residents were more likely to have severe or profound mental retardation and complex partial and partial secondarily generalized seizures. The percentages of persons with 25%, 50%, and 75% reductions in seizure frequency and zero seizures were 64%, 50%, 29%, and 18% respectively, for community residents and 42%, 38%, 23%, and 12% for institutional residents. Investigator-rated clinical status at the end of the Maintenance Phase was improved versus baseline in 68% of community residents and 62% of institutional residents. Most individuals (81% of institutionalized persons, 69% of community-dwelling persons) were considered to have experienced no change in adverse events with the addition of lamotrigine. The mean Habilitative Improvement Scale score was significantly improved (p < or = 0.05) versus baseline at the end of the Escalation, Maintenance, and Optimization Phases in both groups. CONCLUSION: The efficacy and tolerability of lamotrigine were similar between institutional residents and community residents despite the numerically higher prevalence of severe or profound mental retardation among institutional residents.

Activities of Daily Living↗
PubMed1981

Evaluation of auditory sensory memory of mentally retarded and nonretarded persons.

Performance of mentally retarded and nonretarded persons was compared in two experiments designed to identify processes of auditory sensory memory. In one study backward masking of pure tones occurred for a group of retarded adolescents; however, no differences in masking functions were obtained for the retarded group and control groups of equal CA and MA. In the second study a gap-detection task was used as an apparent index of echoic trace durability. Since retarded persons were hypothesized to have a less durable echoic trace, the unique prediction was made that they would outperform control subjects on the task. The retarded group was significantly more accurate and exhibited a lower threshold than did the nonretarded, CA-matched control group. The applicability of these tasks for investigations of mental development was noted, and suggestions were made concerning improvements and extensions of the present research. A theoretical model was proposed to incorporate te current pattern of results.

Adolescent↗
PubMed1988

Age and pattern of intellectual decline among Down syndrome and other mentally retarded adults.

A comparison was made of Down Syndrome and other mentally retarded young adults in community work and residential settings for differences in cognitive profile across age groups using the Wechsler Intelligence Scale for Children. Evidence is of a significant erosion of test scores, especially performance scale scores for the non-DS mentally retarded subjects from the third to fourth decades of life. The Down Syndrome cohort remained relatively stable for cognitive profile over time with the notable exception of the Block Design subtest which declined significantly over the two decades; and in contrast with the control sample. Further investigation is suggested in the event that the Block Design subtest has potential as a diagnostic 'marker' for the early identification of DS individuals likely to be most susceptible to premature Alzheimer's-like senile dementia.

Activities of Daily Living↗
PubMed1992

[A study on effects of parents age, birth order and mental retardation of unknown etiology].

On this report 461 matched cases of mental retardation of unknown aetiology were analysed on the relationship between the diseases and the parents age, birth orders with conditional Logistic regression. These cases were accurately diagnosed and selected from the Epidemiologic Survey of genetic diseases of Sichuan, China. The results found that mental retardation of unknown aetiology is related to the age of parents and birth order. The paternal age is the main factor while the maternal age in not a significant effect and birth order also in not a significant effect after readjusting the other factors. Compared to paternal age group of under 25. There are significant increase of relative risks of age group 30-34 and 45 above, about 1.8 and 2.7 fold increase in univariate analysis and 1.9 and 3.3 fold increase in controlling the maternal age and birth order, a chi-square test for trend of distribution of paternal age also indicates a significant dose response relationship between increasing risk with age. The significance of result and methods of analysis were discussed.

Adult↗
PubMed1999

A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.

Large deletions in Xq21 often are associated with contiguous gene syndromes consisting of X-linked deafness type 3 (DFN3), mental retardation (MRX), and choroideremia (CHM). The identification of deletions associated with classic CHM or DFN3 facilitated the positional cloning of the underlying genes, REP-1 and POU3F4, respectively, and enabled the positioning of the MRX gene in between these genes. Here, we report the cloning and characterization of a novel gene, ribosomal S6-kinase 4 (RSK4; HGMW-approved symbol RPS6KA6), which maps in the MRX critical region. RSK4 is completely deleted in eight patients with the contiguous gene syndrome including MRX, partially deleted in a patient with DFN3 and present in patients with an Xq21 deletion and normal intellectual abilities. RSK4 is most abundantly expressed in brain and kidney. The predicted protein of 746 amino acids shows a high level of homology to three previously isolated members of the human RSK family. RSK2 is involved in Coffin-Lowry syndrome and nonspecific MRX. The localization of RSK4 in the interval that is commonly deleted in mentally retarded males together with the high degree of amino acid identity with RSK2 suggests that RSK4 plays a role in normal neuronal development. Further mutation analyses in males with X-linked mental retardation must prove that RSK4 is indeed a novel MRX gene.

Amino Acid Sequence↗
PubMed1995

The beast in man: degenerationism and mental retardation, 1900-1920.

It is widely believed that the eugenics movements was largely responsible for the turn of the century perception that individuals with mental retardation were a social menace. However, that explanation fails to account for the vast corpus of 19th century degeneration theory, which, in the Progressive era, became the lens through which mental retardation was viewed. In this paper I have described the chain of theological and scientific reasoning that led to the linkage of mental retardation with the evolutionary "mark of the beast," a development that not only helped fuel the notorious myth of the "menace of the feeble-minded" but also cast a long shadow into this century.

Eugenics↗
PubMed1987

The American mental retardation service system.

Significant changes have occurred in the United States in the last 30 years relative to the delivery of services to mentally retarded people. This paper explores the development of community service options in the United States since the late 1950s. The development of these new services is viewed relative to concerns with both deinstitutionalization and normalization. From the vantage point of the mid-1980s, the paper also explores the importance of information on the continuum of care cycle of mentally retarded individuals throughout the life cycle as an important guide to the understanding of how the American mental retardation service system functions.

Deinstitutionalization↗