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PubMed2004

Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses.

Mucopolysaccharidoses (MPSs) are a group of inherited disorders due to lysosomal enzyme deficiencies which lead to multi-organ accumulation of glycosaminoglycans. Some forms of MPS disorders are characterized by various degrees of mental retardation. Magnetic Resonance Imaging (MRI) is the primary imaging technique to detect CNS alterations. The aim of this study is to evaluate the correlation between white matter (WM) alterations and the presence of mental retardation. We analyzed 20 patients with different forms of MPSs, 11 with mental retardation and 9 with a normal cognitive function; all of them underwent brain MRI and received a score on the basis of the alterations (WM alterations; perivascular, subarachnoid, and ventricular space enlargement; abnormalities of the basal ganglia, of the corpus callosum and of the atlanto-axial joint). All patients with mental retardation presented severe WM alterations, while only five out of the nine subjects without mental retardation showed certainly WM abnormalities. As far as the other cerebral abnormalities are concerned, no difference between the two groups has been found. These data seem to show that there is a significant correlation between the presence of WM alterations and mental retardation.

Adolescent↗
PubMed1990

Cognitive antecedents of imitativeness and persistence in children with mental retardation.

Two studies with children with mild mental retardation were conducted within the framework of the cognitive orientation theory, which describes how cognitive contents and processes guide behavior and thus enable behavior predictions and modifications. The studies were designed to test whether specific clusters of beliefs would predict imitation and persistence among individuals with mental retardation. Behavioral measures and questionnaires that assessed beliefs were administered. The belief scores were related significantly to the behaviors. Implications concerning motivation, the developmental-difference controversy, and individual differences were discussed.

Adolescent↗
PubMed1983

Adaptive behavior of mentally retarded adolescents attending school.

Teachers rated 550 mentally retarded adolescents attending special schools on the AAMD Adaptive Behavior Scale (ABS). Results established the reliability and criterion validity of the ABS for use among school-age students and demonstrated the sensitivity of the scale to variation in adaptive and maladaptive behavior between subgroups of mentally retarded students representing differences in seven personal variables: age, sex, estimated intellectual ability, etiology, place of living, the presence or absence of any mobility handicap, and use of medications.

Adolescent↗
PubMed1988

A cytogenetic study of mentally retarded school children in Taiwan with special reference to the fragile X chromosome.

A cytogenetic study was made on 341 mentally retarded children in the Provincial Nantou Rehabilitation Center for the Mentally Retarded and the St. Raphael Opportunity Center in Tainan. Of the 89 mentally retarded children with chromosomal abnormalities, 63 had Down syndrome, 13 had the fragile X [fra(X)] syndrome, and the remaining had other aneuploid constitutions. Family studies were possible for 2 of the 13 fra(X) probands. The results of this study illustrate the contribution of chromosomal abnormalities to the pathogenesis of mental retardation in children.

Chromosome Banding↗
PubMed1997

Systematic screening for fragile X syndrome in a cohort of 574 mentally retarded children.

In this study, we evaluated the prevalence of the fragile X syndrome in a cohort of 574 mentally retarded children. The only inclusion criterion was the diagnosis of mental retardation according to the DSM-IIIR classification. We used a PCR-based strategy for the diagnosis of fragile X syndrome to facilitate systematic screening. This diagnostic scheme is based on an initial PCR to eliminate most fragile X-negative patients followed by Southern blotting for fragile X syndrome diagnosis. Altogether, 403 boys and 171 girls were tested. The prevalence of this genetic disorder was 1.9% (11/574) in the whole cohort and 2.5% (10/403) in boys. Only one case of fragile X syndrome was detected among the 171 girls tested (0.6%). Clinical examination, especially in the youngest children, was often unremarkable, and the only reason for suspecting fragile X syndrome was the presence of mental retardation. Thus, a systematic screening for the fragile X syndrome in mentally retarded children seems justified because of the importance of a precise diagnosis in genetic counseling.

Adolescent↗
PubMed2003

Genetics, mental retardation, and the forging of new alliances.

The lives of people with intellectual disabilities are tightly intermeshed with the philosophies and practices of special educators, therapists, psychologists, social workers, and others who make up the mental retardation field. These nonmedical workers represent a kind of extended family, which can strongly influence the decisions made and services received by the people they serve. By contrast, most individuals with mental retardation do not have extraordinary medical needs, and healthcare professionals play only a minor role in their human services family. There are deeply rooted historical differences between the medical model of mental retardation with which genetics professionals are familiar and the philosophies embraced by nonmedical workers who dominate the mental retardation field. These contrasts have an important impact on the genetic diagnostic process, as well as a more global effect on mental retardation research. Without the full participation of teachers, therapists, psychologists, and others outside the medical setting, many practical applications of genetic research can neither be implemented nor expanded upon, and an important opportunity for cross-fertilization is lost. It is in the interest of the genetics community to take advantage of recent overtures by the mental retardation field to forge new alliances and broaden its perspectives on intellectual disability.

Diagnosis, Differential↗
PubMed1989

Euthanasia and mental retardation: suggesting the unthinkable.

Current opinions on euthanasia of persons with mental retardation were discussed within the framework of the development of social policy towards this population. Historians of mental retardation have emphasized that incarceration and sterilization were the only two policy options available in the late 19th and early 20th centuries, but a third option, euthanasia, was also suggested. The significance of the euthanasia option as the nation struggled to find a solution to the question of how to deal with what was thought to be a sharp rise in the number of people with mental retardation in the United States in the late 19th and early 20th centuries was examined. The responses of service providers to suggestions that euthanasia be implemented were reviewed. The rejection of proposals for euthanasia on moral and religious grounds and on the basis that custodial institutions, based on eugenics principles, were able to achieve the same end through a scientifically justifiable means was explored.

Eugenics↗
PubMed2000

MECP2 mutation in male patients with non-specific X-linked mental retardation.

In contrast to the preponderance of affected males in families with X-linked mental retardation, Rett syndrome (RTT) is a neurological disorder occurring almost exclusively in females. The near complete absence of affected males in RTT families has been explained by the lethal effect of an X-linked gene mutation in hemizygous affected males. We report here on a novel mutation (A140V) in the MECP2 gene detected in one female with mild mental retardation. In a family study, the A140V mutation was found to segregate in the affected daughter and in four adult sons with severe mental retardation. These results indicate that MECP2 mutations are not necessarily lethal in males and that they can be causative of non-specific X-linked mental retardation.

Adult↗
PubMed1981

Patterns of language performance in educable mentally retarded children.

Forty-one familial educable mentally retarded children were given 12 language tasks measuring comprehension, formulation, and repetition at the semantic, syntactic, and phonologic levels of language. Through the Q technique of factor analysis, six language patterns, derived from positive and negative loadings on three factors, emerged. The six patients of language performance revealed that these mentally retarded children did not perform the same across all language dimensions. Their language performance demonstrated different patterns of strengths and weaknesses among the tasks relative to their overall performance.

Child↗
PubMed1997

Minimum alveolar concentration for halothane in children with cerebral palsy and severe mental retardation.

Children with cerebral palsy and severe mental retardation who present for operation may require lower concentrations of inhalational anaesthetics than healthy children. The minimum alveolar concentration (MAC) for halothane was measured in 36 children and adolescents, aged 4-18 years, who underwent orthopaedic surgery. The control group consisted of 12 healthy children (group 1). Children with cerebral palsy and severe mental retardation were allocated to one of two groups: those taking chronic anticonvulsant medication (group 2) (n = 12) and those who did not take any drugs (group 3) (n = 12). The mean (SEM) MAC value for halothane (expressed in volume per cent) was 0.90 (0.02) for healthy children. Children with cerebral palsy had significantly lower MAC values whether they took anticonvulsant drugs or not (0.62 (0.03) and 0.71 (0.10), respectively).

Adolescent↗
PubMedDate not supplied

Fra(X) frequency on the active X-chromosome and phenotype in heterozygous carriers of the fra(X) form of mental retardation.

Female heterozygotes of the fra(X) form of mental retardation show variable degrees of mental impairment and phenotype expression of the disorder. This might be an effect of inactivation of the X-chromosome which carries the fra(X)(q). Prior replication studies in heterozygous carriers gave contradictory results with respect to possible genotype-phenotype correlation. In the interpretation of these studies it is important to understand the effect of BrdU on the fra(X)(q) expression. In a group of 13 hemizygous patients with fra(X)(q) and 7 heterozygous carriers we studied the effect of BrdU on fra(X) expression. In the heterozygous carriers the use of BrdU resulted in a significant suppression of the fra(X)(q), while in hemizygous patients no difference in fra(X)(q) frequency with or without BrdU could be observed. It can be concluded that BrdU suppresses the fra(X)(q) preferentially on the inactive X-chromosome. Thus the fra(X)(q) frequency on the active X-chromosome is of primary importance in phenotype correlation studies among heterozygous carriers. In our group of heterozygous carriers we observed a negative correlation between (IQ) phenotype and fra(X)(q) expression on the active X-chromosome. This suggests that the gene for the fra(X)(q) form of mental retardation is on the X-chromosome and undergoes inactivation.

Bromodeoxyuridine↗
PubMedDate not supplied

Reporting of medication regimen in applied studies of persons with mental retardation and ADHD.

The present survey determined whether articles describing attempts to alter behavior in people with mental retardation and Attention-Deficit/Hyperactivity Disorder (ADHD) (a) reported whether or not participants were receiving medications, (b) evaluated drugs as independent variables, and (c) evaluated (or discussed) interactions between pharmacological and nonpharmacological treatments. All behavior-change articles published from 1991 through 1995 in 10 major journals were evaluated. In contrast to the results of earlier surveys, nearly 40% of studies involving participants with mental retardation provided information about medication. This change appears to represent a significant methodological improvement. Nearly 60% of articles involving persons with ADHD provided information about medication. Studies of drugs were common when participants were people with ADHD, but not when they were people with mental retardation. The psychopharmacology of mental retardation continues to be a small, but important, research area. Studies examining treatment interactions were rare, regardless of participants' characteristics. Given that pharmacological treatments may alter participants' sensitivity to nonpharmacological interventions, further research in this area is sorely needed.

Attention Deficit Disorder with Hyperactivity↗
PubMedDate not supplied

Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation.

In 2-8% of patients with mental retardation, small copy number changes in the subtelomeric region are thought to be the underlying cause. As detection of these genomic rearrangements is labour intensive using FISH, we constructed and validated a high-density BAC/PAC array covering the first 5 Mb of all subtelomeric regions and applied it in our routine screening of patients with idiopathic mental retardation for submicroscopic telomeric rearrangements. The present study shows the efficiency of this comprehensive subtelomere array in detecting terminal deletions and duplications but also small interstitial subtelomeric rearrangements, starting from small amounts of DNA. With our array, the size of the affected segments, at least those smaller than 5 Mb, can be determined simultaneously in the same experiment. In the first 100 patient samples analysed in our diagnostic practice by the use of this comprehensive telomere array, we found three patients with deletions in 3p, 10q and 15q, respectively, four patients with duplications in 9p, 12p, 21q and Xp, respectively, and one patient with a del 6q/dup 16q. The patients with del 3p and 10q and dup 12p had interstitial rearrangements that would have been missed with techniques using one probe per subtelomeric region chosen close to the telomere.

Adult↗
PubMed1984

Spiritual and religious need of mentally retarded persons.

Describes the special spiritual and religious needs of the mentally retarded, at the same time proclaiming the necessity of thinking of them firstly as persons. Gives specific illustrations of how the spiritual and religious needs of the mentally retarded may be met by peers, chaplains, and family members. Offers a personal testimony on how the mentally retarded can contribute to the growth and insight of the caregiver.

Canada↗
PubMed2001

Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21.

Mental retardation (MR) is a genetically heterogeneous, clinically variable condition. Many cases of MR are linked to the X chromosome. The aim of this study was to identify candidate loci for nonspecific MR in Spanish samples. We selected seven families with nonspecific MR and a pattern of inheritance compatible with an X-linked disorder and a group of 26 sib pairs of mentally retarded individuals. We performed linkage analysis with a panel of 15 markers evenly distributed along the X chromosome. The study showed linkage to marker DXS8076, located in Xq21.1, by the lod score method (z = 2.11 at straight theta = 0.155) and the nonparametric extended relative pair analysis method (chi(2) = 5.32; P < 0.03). Genetic heterogeneity was found, with an estimated 75% of the families linked at recombination fraction straight theta = 0.10 to the DXS8076 locus (chi(2) = 9.51; P < 0.009). Xq13-q21 is one of the critical regions for X-linked MR previously reported, and our study supports the idea that this region may contain a locus for MR in Spanish patients.

DNA↗
PubMed1993

Factors influencing the expectations of parents for their mentally retarded children.

In terms of treatment for cure, education, training and general information, parental expectations for their mentally retarded children are influenced by various factors such as the age and sex of the retarded child, the level of mental retardation, the education and occupation of the parents, and the socio-economic status and area of living. In the present study, an attempt has been made to find out the correlation of six variables namely, age, sex, literacy, locality of living, level of retardation and duration of follow-up on the expectation of one hundred parents of mentally retarded children who attend the home-based services at the National Institute for the Mentally Handicapped, Secunderabad, India. The intercorrelation among the six independent variables and the dependent variable revealed that age of the child and duration of follow-up have a high correlation (P < 0.01), and literacy of the parents and duration of follow-up were positively correlated (P < 0.05 level). It was also found that age and duration of follow-up have a positive correlation. Further detailed multiple regression analysis was conducted and the results are discussed.

Adolescent↗
PubMed1998

[Genetic evaluation of mental retardation].

About 3% of the population is mentally retarded. Due to the progress in medical genetics, congenital origin of disability may be explored in an increasing number of affected children, however, the etiology can still not be determined in a large proportion of the cases, although this would be indispensable for a rational therapy and genetic counselling. This review deals with some general principles and special aspects of genetic evaluation of the mentally retarded.

Age Factors↗
PubMed1998

Björnstad syndrome in a patient with mental retardation.

Björnstad syndrome in a patient with mental retardation: Pili torti or twisted hair can appear as an isolated defect, in association with other ectodermal defects, in association with other clinical features or can be acquired. Björnstad syndrome is a rare condition with apparent autosomal recessive inheritance, characterized by hearing loss and twisted hairs (pili torti). All patients with Björnstad syndrome reported thusfar have normal intelligence. We report on a patient with severe mental retardation and review the literature.

Hair↗