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PubMed1987

Chromosomal aberrations in 85 mentally retarded patients examined by high resolution banding.

Eighty-five mentally retarded patients had their chromosomes examined by using the high resolution banding techniques. Fifty-nine of them had multiple congenital anomalies and/or dysmorphic features. Twenty-six had mental retardation but no major anomalies; they were primarily suspected of having the fragile X syndrome. This suspicion was first excluded. Fifteen patients were found to have a chromosome aberration, interpreted as clinically significant. Eleven of them had been examined earlier by conventional methods. The aberrations found were divided into three groups: (I) those detectable with an accuracy of ca. 300-400 bands (N = 4), (II) those detectable with an accuracy of ca. 400-550 bands (N = 6) and (III) those detectable with an accuracy of ca. 550-850 bands (N = 5). The aberrations are described and discussed.

Adolescent↗
PubMed1986

A critical appraisal of recent drug research in mental retardation: the Coldwater studies.

This paper attempts to assess public and professional attitudes toward drug treatment in mental retardation and concludes that considerable sentiment has developed in recent years against the use of pharmacotherapy. A number of factors contributing to this prevailing attitude were identified and discussed. In particular, a series of investigations carried out by researchers at the Coldwater Regional Center for Developmental Disabilities (Michigan), which have had negative implications for drug treatment, were summarized. These studies have suggested that psychotropic drugs, especially the antipsychotics, may adversely affect clinical management of mentally retarded persons, depress learning performance, and interfere with the efficacy of reinforcement contingencies. However, certain features of these studies, such as the procedures for selecting subjects, the doses utilized and overall guiding philosophy, appear to limit their relevance. Balanced against these are a number of other investigations showing circumscribed positive clinical effects, a lack of interference with learning and little or no disruption of reinforcement contingencies. It was concluded that all-encompassing judgments about the value of pharmacotherapy in mentally retarded people are premature at this time. We suggested that a major objective of clinical drug research should be to look for enhancement of adaptive functioning by discovering appropriate subject-treatment combinations, while remaining vigilant for adverse effects.

Aggression↗
PubMed1997

Psychopharmacoepidemiology of mental retardation: 1966 to 1995.

We present a brief historical overview of the prevalence studies of psychotropic drugs in individuals with mental retardation that were published between 1966 and 1985, and a more comprehensive review of the prevalence studies from 1986 to 1995. During the 1966 to 1985 period, typical prevalence rates of drug treatments in institutions (children and adults analyzed together) were found to range from 30% to 40% for psychotropic drugs, 25% to 45% for anticonvulsants, and 50% to 70% for psychotropic and/or anticonvulsant drugs (i.e., psychotropics, anticonvulsants, or their combinations). In the community during the same period, prevalence rates in children were typically 2% to 7% for psychotropics, 12% to 31% for anticonvulsants, and 18% to 33% for psychotropic and/or anticonvulsant drugs. For adults in the community, prevalence rates ranged from 26% to 36% for psychotropics, 18% to 24% for anticonvulsants, and 36% to 48% for psychotropic and/or anticonvulsant drugs. In contrast, during the 1986 to 1995 period, typical prevalence rates in institutions ranged from 12% to 40% for psychotropics, 24% to 41% for anticonvulsants, and 44% to 60% for psychotropic and/or anticonvulsant drugs. In the same period, the prevalence rates in the community (for adults and children analyzed together) ranged from 19% to 29% for psychotropics, 18% to 23% for anticonvulsants, and 35% to 45% for psychotropic and/or anticonvulsant drugs. An analysis of the patterns of medication use showed that patient demographic, physical, social, behavioral, and psychiatric variables, as well as a number of staff variables, were correlated with use of pharmacotherapy in the entire population of individuals with mental retardation. A substantial number of individuals with mental retardation appeared to be prescribed psychotropic medications that may have been inappropriate for their diagnosis.

Adolescent↗
PubMed2003

Understanding mental retardation in Down's syndrome using trisomy 16 mouse models.

Mental retardation in Down's syndrome, human trisomy 21, is characterized by developmental delays, language and memory deficits and other cognitive abnormalities. Neurophysiological and functional information is needed to understand the mechanisms of mental retardation in Down's syndrome. The trisomy mouse models provide windows into the molecular and developmental effects associated with abnormal chromosome numbers. The distal segment of mouse chromosome 16 is homologous to nearly the entire long arm of human chromosome 21. Therefore, mice with full or segmental trisomy 16 (Ts65Dn) are considered reliable animal models of Down's syndrome. Ts65Dn mice demonstrate impaired learning in spatial tests and abnormalities in hippocampal synaptic plasticity. We hypothesize that the physiological impairments in the Ts65Dn mouse hippocampus can model the suboptimal brain function occuring at various levels of Down's syndrome brain hierarchy, starting at a single neuron, and then affecting simple and complex neuronal networks. Once these elements create the gross brain structure, their dysfunctional activity cannot be overcome by extensive plasticity and redundancy, and therefore, at the end of the maturation period the mind inside this brain remains deficient and delayed in its capabilities. The complicated interactions that govern this aberrant developmental process cannot be rescued through existing compensatory mechanisms. In summary, overexpression of genes from chromosome 21 shifts biological homeostasis in the Down's syndrome brain to a new less functional state.

Animals↗
PubMed2006

Proximal 19q trisomy: a new syndrome of morbid obesity and mental retardation.

AIMS: To report on the clinical and metabolic characteristic and the unique chromosomal defect of a mentally retarded and morbidly obese patient. METHODS: A 13-year follow-up, including insulin sensitivity, lipid profile and polysomnography studies and various therapeutic interventions are described. The presence of a supernumerary marker in karyotype preparation was further studied by fluorescence in situ hybridization (FISH). Comparative genomic hybridization (CGH) was used to identify the source of the chromosomal marker. RESULTS: Insulin resistance was found by the homeostatic model assessment (HOMA) and the quantitative insulin sensitivity check index (QUICKI). M-FISH identified euchromatin derived from chromosome 19, and CGH confirmed the FISH results and demonstrated that the supernumerary marker derived from 19q12 to 19q13.2. CONCLUSION: The clinical and metabolic characteristics in association with partial chromosomal trisomy differ our patient from the currently known syndromes of obesity and mental retardation. The metabolic impairments in this case can derive from unbalanced expression of several genes in the 19q12-19q13.2 region, genes that are related to adipose tissue homeostasis and insulin resistance. The clinical and genetic similarities to a previously reported case may suggest that partial 19q trisomy is a new syndrome of obesity and mental retardation.

Adolescent↗
PubMed2005

X-linked mental retardation: further lumping, splitting and emerging phenotypes.

X-linked mental retardation (XLMR) is a very heterogeneous condition, subdivided in two categories mainly based on clinical features: syndromic XLMR (MRXS) and non-syndromic XLMR (MRX). Although it was thought that 20-25% of mental retardation (MR) in males was caused by monogenetic X-linked factors, recent estimations are lower: in the range of 10-12%. The number of identified genes involved in XLMR has been rapidly growing in the past years. Subsequently, an increasing number of patients and families have been reported in which mutations in XLMR genes have been identified. It was observed previously, that mutations in several of XLMR genes can result in syndromic and in non-syndromic phenotypes. This observation has been confirmed for the more recently identified genes. Therefore, in this review, focus has been given on the clinical data and on phenotype-genotype correlations for those genes implicated in both non-syndromic and syndromic XLMR.

Adult↗
PubMed2003

Equivalence relations in individuals with language limitations and mental retardation.

The study of equivalence relations exhibited by individuals with mental retardation and language limitations holds the promise of providing information of both theoretical and practical significance. We reviewed the equivalence literature with this population, defined in terms of subjects having moderate, severe, or profound mental retardation. The literature includes 55 such individuals, most of whom showed positive outcomes on equivalence tests. The results to date suggest that naming skills are not necessary for positive equivalence test outcomes. Thus far, however, relatively few subjects with minimal language have been studied. Moreover, we suggest that the scientific contributions of studies in this area would be enhanced with better documentation of language skills and other subject characteristics. With recent advances in laboratory procedures for establishing the baseline performances necessary for equivalence tests, this research area is poised for rapid growth.

Discrimination, Psychological↗
PubMed1998

Evolution of epilepsy in children with mental retardation: five-year experience in 78 cases.

Various aspects of epilepsy, including its evolution, were studied in 78 children with mental retardation in a prospective 5-year (1989-1994) follow-up study. Level of mental retardation was moderate or even more severe (IQ < 50) in 83% of children, and 56% suffered from significant cerebral palsy. Epilepsy remained uncontrolled in 28% of cases, 2-year remission was achieved by 26%, and mortality was 12% during the study period. Associated cerebral palsy was the most important single risk factor for severe epilepsy, and several handicaps seemed to have a strong multiplicative effect. Complexity of epilepsy in children with mental retardation was reflected by the evolutionary features described.

Age of Onset↗
PubMed1997

Visual discrimination and motor reproduction of movement by individuals with mental retardation.

Visual discrimination and motor reproduction tasks involving computer-simulated arm movements were administered to 12 adults with mental retardation and a gender-matched control group to examine whether inadequacies in visual perception account for the poorer motor performance of individuals with mental retardation. In the discrimination phase subjects judged whether simulated arm movements were either of greater or lesser extent or shorter or longer in duration, respectively, than those of a standard display. In the reproduction phase accuracy in reproducing the movement in the standard display was measured. Results indicate that error in discriminating extent and duration was significantly greater for the individuals with mental retardation, who were also less accurate and more variable in matching the extent and duration of the standard displays. These outcomes implicate both perceptual and motor-reproduction inadequacies in skill acquisition for these individuals.

Adult↗
PubMed1998

Self-reported fears in Hispanic youth with mental retardation: a preliminary study.

There is a paucity of research on the frequency, intensity, and content of fears experienced by Hispanic (or Latino) American youth with mental retardation. We assessed fears experienced by 48 Hispanic youth with mental retardation (ages 10 to 21 years) using the Fear Survey for Children With and Without Mental Retardation. Although differences were found in the content of fears across age and gender groups, the number and intensity of fears did not differ. Promising evidence of the validity of this survey instrument was attained by its significant correlations with the Revised Children's Manifest Anxiety Scale. Implications for future research were discussed.

Adolescent↗
PubMed1994

Adaptation of Hispanic families to a member with mental retardation.

Adaptation of Hispanic (n = 51) and non-Hispanic (n = 195) white families to having a member with mental retardation was examined using surveys and interviews. We compared these families' demographic characteristics, religious values, and support resources and examined how these factors differentially affected caregiving burden for each group. Surveys and interviews were collected from 51 Hispanic and 195 non-Hispanic white families. Findings indicated that Hispanic families differed from the other families in SES, age of the person with mental retardation, religious values, and in their perceived burden of caring for a family member with mental retardation. Patterns of determinants of caregiving burden did not differ significantly for the two groups.

Adaptation, Psychological↗
PubMed1998

Use of psychotropic medications for persons with mental retardation who live in Oklahoma nursing homes.

OBJECTIVE: The study examined the use of psychotropic medications to treat persons with mental retardation living in nursing homes in Oklahoma. METHODS: Data were gathered on all 1,056 individuals funded through the Oklahoma mental retardation service system in 1995 to live in nursing homes. The Developmental Disabilities Quality Assurance Questionnaire was used to assess adaptive behavior, living site conditions, health, use of medications, and other variables. RESULTS: The most frequently used class of psychotropic medications was antipsychotic medication, used by 31.8 percent of subjects. Sixteen percent received anxiolytic medication, and 6.1 percent received antidepressant medication. Stepwise multiple regression analysis indicated that use of antipsychotic medication was marginally predictable (less than 15 percent of the variance was explained) with a linear combination of six variables: mental health problems; violence toward others; adaptive behavior; screaming, yelling, or crying behavior; hyperactivity; and age. CONCLUSIONS: A relatively high percentage of subjects received various forms of psychotropic medications, especially antipsychotics. The presence of behavior problems or mental health problems did not sufficiently explain the high rate of use of antipsychotic medication. The risks of this type of medication and its lower rate of use in group homes raise the question of the appropriateness of placing persons with mental retardation in nursing homes as they are currently conceived.

Adolescent↗
PubMed1996

Study of subarachnoid spaces in children with idiopathic mental retardation.

The aim of this study was to assess quantitatively the size of the subarachnoid space in children with "idiopathic" mental retardation. The extent of various cerebrospinal fluid compartments was measured in 106 brain computed tomographic examinations of children with idiopathic mental retardation, and the results were compared with the corresponding normative data. The third ventricle was enlarged in 77% of the cases. A mild degree of diffuse widening of the subarachnoid spaces was found in about 30% of the patients. These morphologic alterations are additional observations supporting the hypothesis that "idiopathic" mental retardation has a biologic basis.

Adolescent↗
PubMed2001

Novel X-linked mental retardation syndrome with short stature maps to Xq24.

We describe a large family from Sardinia, Italy, in which a novel X- linked mental retardation (XLMR) syndrome segregates. The phenotype observed in the 8 affected males includes severe mental retardation (MR), lack of speech, coarse face, distinctive skeletal features with short stature, brachydactyly of fingers and toes, small downslanting palpebral fissures, large bulbous nose, hypoplastic ear lobe and macrostomia. Carrier females are not mentally retarded, although some of them have mild dysmorphic features such as minor ear lobe abnormalities, as well as language and learning problems. Linkage analysis for X-chromosome markers resulted in a maximum lod score of 3.61 with marker DXS1001 in Xq24. Recombination observed with flanking markers identified a region of 16 cM for further study. None of the other XLMR syndromes known to map in the same region shows the same composite phenotype. This evidence strongly suggests that the genetic disease in this family is unique.

Adolescent↗
PubMed1987

Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology.

Recent epidemiological studies of mental retardation were critically reviewed. Data pertaining to prevalence, associated disorders, and etiology were examined. The prevalence both of severe and of mild retardation is generally found to be 3 to 4 per 1,000, although estimates vary with gender, age, and method of ascertainment (e.g., data derived from total population screening yield even higher rates). A wide range of disorders were found to be associated with mental retardation. The etiology of up to 50% of cases was unknown. Of those remaining, prenatal factors were implicated about twice as often as peri- or postnatal factors. Discussion was focused on the implications of current findings for future research.

Cross-Sectional Studies↗
PubMedDate not supplied

Assessment of terms to describe mental retardation.

There is currently debate among professionals in the area of mental retardation/developmental disabilities regarding the use of, and a possible replacement for, the term mental retardation. Using the semantic differential technique, 284 participants drawn from various Midwestern populations completed assessments of several terms used to describe the condition known as mental retardation (e.g., intellectual disability) as well as the person with the condition (e.g., mentally challenged) and other disabilities (e.g., physically disabled). Assessments were made on three factors: evaluation, activity, and potency. Results indicated that although all of the terms were generally assessed neutrally, the term Mentally Challenged emerged as the most positive particularly compared to evaluations of the other investigated terms. Moreover, mentally challenged was evaluated as significantly more positive compared to the term physically disabled but was similarly evaluated as the term visually disabled. Implications of the results are discussed.

Adult↗
PubMed1991

Long term observation of the effect of intradermal hepatitis B vaccination on mentally retarded patients.

Sixty-two patients of two institutions for mentally retarded patients were immunized intradermally with 4 micrograms doses of plasma-derived hepatitis B vaccine made in Japan, initially at month 0.1 and 6. The three vaccinations induced antibodies in 93.5% (90.9% in those with Down's syndrome (DS), 94.1% in other forms of mental retardation (OMR) of the vaccinees within 9 months after the first injection, and the percentage of geometric mean titers of antibody above 10 mIU/ml was 89.3% (81.8% DS, 84.3% OMR) within 9 months. Within 2 years, the seroconversion rate showed a significantly higher decrease in subjects with DS (54.5%) than in OMR (86.3%), and the percentage of vaccines with above 10 mIU/ml also showed a significantly higher decrease in subjects with DS (36.4%) than in those with OMR (74.5%) (p less than 0.05). In the OMR patients, the antibody response persisted for 2 years, decreased remarkably in the DS patients.

Adult↗
PubMed2001

Monogenic causes of X-linked mental retardation.

Mutations in X-linked genes are likely to account for the observation that more males than females are affected by mental retardation. Causative mutations have recently been identified in both syndromic X-linked mental retardation (XLMR) and in the genetically heterogeneous 'nonspecific' forms of XLMR, for which cognitive impairment is the only defining clinical feature. Proteins that function in chromatin remodelling are affected in three important syndromic forms of XLMR. In nonspecific forms of the disorder, defects have been found in signal-transduction pathways that are believed to function during neuronal maturation. These findings provide important insights into the molecular and cellular defects that underlie mental retardation.

Chromosome Mapping↗