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PubMed2006

An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene.

Fragile X syndrome, the most common form of inherited mental retardation in males, arises when the normally stable 5 to 50 CGG repeats in the 5' untranslated region of the fragile X mental retardation protein 1 (FMR1) gene expand to over 200, leading to DNA methylation and silencing of the FMR1 promoter. Although the events that trigger local CGG expansion remain unknown, the stability of trinucleotide repeat tracts is affected by their position relative to an origin of DNA replication in model systems. Origins of DNA replication in the FMR1 locus have not yet been described. Here, we report an origin of replication adjacent to the FMR1 promoter and CGG repeats that was identified by scanning a 35-kb region. Prereplication proteins Orc3p and Mcm4p bind to chromatin in the FMR1 initiation region in vivo. The position of the FMR1 origin relative to the CGG repeats is consistent with a role in repeat maintenance. The FMR1 origin is active in transformed cell lines, fibroblasts from healthy individuals, fibroblasts from patients with fragile X syndrome, and fetal cells as early as 8 weeks old. The potential role of the FMR1 origin in CGG tract instability is discussed.

Cells, Cultured↗
PubMed2004

Fragile X mental retardation protein is associated with translating polyribosomes in neuronal cells.

Fragile X mental retardation protein (FMRP) is an RNA binding protein encoded by the gene FMR1, whose expression is impaired in patients with fragile X mental retardation. The association of FMRP with polyribosomes in non-neural cell lines has previously suggested that FMRP is involved in translational regulation. However, the relevance of these studies to neuronal function has been questioned by the finding that FMRP in brain is not associated with polyribosomes, but is part of small ribonucleo-protein complexes that do not appear to include ribosomes. Here we optimize methods to analyze brain polyribosomes, allowing us to definitively demonstrate that FMRP forms complexes with cortical brain polyribosomes. Moreover, we demonstrate in neuroblastoma cells that the FMRP-polyribosome complexes are sensitive to puromycin, a drug that targets actively translating ribosomes. These data indicate that FMRP associates with functional polyribosomes in neurons.

Animals↗
PubMed1989

[The effect of vitamin administration on mental development in mentally retarded children].

Vitamin administration in severely mentally retarded children in order to improve their IQ and other forms of personality development has not such a favourable effect as in children with minor cerebral dysfunction. The author administered vitamins A, B, C, D and E to 18 imbecile children. As compared with a control group not given vitamins, no marked changes were observed. This leads to the view that the favourable action of vitamins in children with minor cerebral dysfunction is sometimes assumed in severely mentally affected children where the final effect is in the optimal case nil.

Child↗
PubMed1993

[X-linked mental retardation: variations in the fragile X mutations and genetic counseling].

The fragile X syndrome is one of the most common forms of genetic mental retardation and is caused by elongation of a small target DNA fragment containing a repeat of the trinucleotide CGG located in a 5' exon of the FMR-1 gene on the X chromosome. The genetic mutations were classified as two main types, premutation and full mutation, according to the size of the elongation. Because clinical findings are varied in patients with the fragile X syndrome, diagnosis of the disease is very difficult when based only on clinical symptoms. Molecular findings in three families with the fragile X syndrome showed that individuals with the full mutation were moderately mentally retarded, but individuals with the premutation had normal intelligence. The intellectual quotient levels in the families related to the sizes of the mutation which were unstable from generation to generation. These findings suggested that molecular studies in patients with mental retardation are very usefull to diagnose the fragile X syndrome, and that genetic counseling should be carried out based on the DNA analyses of the FMR-1 gene in the family members.

Adolescent↗
PubMed2005

Age-dependent and selective impairment of long-term potentiation in the anterior piriform cortex of mice lacking the fragile X mental retardation protein.

Synaptic function and plasticity were studied in mice lacking the fragile X mental retardation protein (FMRP), a model for the fragile X mental retardation syndrome. Associational connections were studied in slices of anterior piriform (olfactory) cortex, and Schaffer-commissural synapses were studied in slices of hippocampus. Knock-out (KO) mice lacking FMRP were compared with congenic C57BL/6J wild-type (WT) controls. Input-output curves and paired-pulse plasticity were not significantly altered in KO compared with WT mice in either the olfactory cortex or hippocampus. Long-term potentiation (LTP) induced by theta burst stimulation in the anterior piriform cortex was normal in KO mice aged < 6 months but was impaired in KO mice aged > 6 months. The deficit in LTP was significant in mice aged 6-12 months and more pronounced in mice aged 12-18 months. Similar differences between WT and KO mice were seen whether LTP was induced in the presence or absence of a GABAA receptor blocker. Postsynaptic responses to patterned burst stimulation in KO mice showing impaired LTP were not significantly different from those in WT mice, suggesting that the LTP deficit was not caused by alterations in circuit properties. No differences in hippocampal LTP were observed in WT and KO mice at any ages. The results indicate that FMRP deficiency is associated with an age-dependent and region-selective impairment in long-term synaptic plasticity.

Aging↗
PubMed1996

Predictive value of age of walking for later motor performance in children with mental retardation.

The purpose of the present study was to clarify the predictive value of age of walking for later motor performance in children with mental retardation. While paying due attention to other factors, our investigation focused on the relationship between a subject's age of walking, and his or her subsequent beam-walking performance. The subjects were 85 children with mental retardation with an average age of 13 years and 3 months. Beam-walking performance was measured by a procedure developed by the authors. Five low beams (5 cm) which varied in width (12.5, 10, 7.5, 5 and 2.5 cm) were employed. The performance of subjects was scored from zero to five points according to the width of the beam that they were able to walk without falling off. From the results of multiple regression analysis, three independent variables were found to be significantly related to beam-walking performance. The age of walking was the most basic variable: partial correlation coefficient (PCC) = -45; standardized partial regression coefficient (SPRC) = -0.41. The next variable in importance was walking duration (PCC = 0.38; SPRC = 0.31). The autism variable also contributed significantly (PCC = 0.28; SPRC = 0.22). Therefore, within the age range used in the present study, the age of walking in children with mental retardation was thought to have sufficient predictive value, even when the variables which might have possibly affected their subsequent performance were taken into consideration; the earlier the age of walking, the better the beam-walking performance.

Adolescent↗
PubMed1995

Active epilepsy in mentally retarded children. I. Prevalence and additional neuro-impairments.

A population-based study of active epilepsy was conducted in 6-13-year-old mentally retarded children born between 1975 and 1986. The population at risk comprised 48,873 children. Ninety-eight children were identified, 35 mildly and 63 severely retarded. The prevalence was 2.0 per 1000; 0.7 per 1000 for mildly and 1.3 per 1000 for severely retarded children. Sixty-nine children had at least one additional neuroimpairment. Cerebral palsy was found in 42 children with a majority of spastic/dystonic tetraplegias; visual impairment was present in 24 and autism in 24. Thirty-three children had only a mild or no gross motor disability and mild mental retardation, while 23 had IQs < 20 and a very severe gross motor disability. This study underlines the fact that active epilepsy in mentally retarded children is often associated with additional neuroimpairments, especially a combination of severe cerebral palsy and severe visual impairment.

Adolescent↗
PubMed1989

Utilization of aging network services by elderly persons with mental retardation.

Examined was the extent to which 373 programs in eight types of services provided by the aging network in Massachusetts were utilized by elderly persons with mental retardation. Based on a mailed survey, it was found that over half the programs (52%) had served such clients in 1987. In 2 of the 8 types of services, clients with mental retardation constituted at least 10% of the caseload. Characteristics that differentiated programs that provided services to persons with mental retardation and programs that did not were reported. The policy implications of the findings were discussed.

Health Services for the Aged↗
PubMed2002

Assessment of anxiety and depression in adolescents with mental retardation.

This report examines the concurrent validity of different informant and self-report assessment instruments of psychopathology, both general and specific for anxiety and/or depression, in referred mentally retarded adolescents with a depressive and anxiety disorders, according to DSM IV criteria. A consecutive, unselected sample of 50 mildly and moderate mentally retarded adolescents (29 males and 21 females, aged 11.8 to 18 years, mean age 15.1) were assessed using standardized assessment techniques: Psychopathology Instrument for Mentally Retarded Adults (PIMRA) (informant version) (total score, affective and anxiety subscales), Child Behavior Checklist (CBCL) (informant version) (total score, internalizing and externalizing scores, anxiety-depression scale), Zung Self-Rating Depression Scale and Zung Self-Rating Anxiety Scale. Patterns of correlation among measures were calculated. PIMRA and CBCL total scores were closely intercorrelated. Internalizing and externalizing scores of CBCL were not intercorrelated, but they both correlated with CBCL and PIMRA total scores. Anxiety measures were positively correlated; they correlated with PIMRA and CBCL total scores, as well as with the internalizing score of CBCL. Depression measures were not correlated; their correlation with more general measures of psychopathology was weak. Clinical implications of these findings are discussed.

Adolescent↗
PubMedDate not supplied

Dental health status of mentally retarded adults with various living arrangements.

During the last few years in Sweden, there has been a change in the way of living for the mentally retarded. There has been a gradual movement away from institutions toward a more integrated life within society. The aim of the present study was to examine the dental health of mentally retarded adults with different ways of living. Forty-two subjects lived in an institution, 50 lived in integrated units, and 40 stayed in their own apartments or with their parents. All subjects had had regular dental care for at least ten years. The clinical examination was made by one dentist. The use of fluoride and chlorhexidine was recorded in addition to a microbiological examination. The results showed a higher caries prevalence and incidence in subjects with integrated living. Compared with other studies where the mentally retarded had had no regular dental care, the caries incidence and prevalence were lower in this study, and the number of missing teeth was lower. The prevalence of mutans streptococci was related to caries prevalence and incidence. High scores of mutans streptococci could be observed, even among subjects with a frequent use of chlorhexidine gel. The loss of alveolar bone was more pronounced for individuals living in the institution compared with that in individuals with other ways of living.

Adult↗
PubMed1985

A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation.

The view that the Martin-Bell syndrome (X-linked mental retardation with fragile site at Xq27/8) is inherited in a regular X-linked fashion is becoming untenable with the increasing number of reports of transmission through phenotypically normal males. Analysis of the published pedigrees containing such males shows that their heterozygous daughters are never mentally retarded, and have either no fragile site or very few indeed. By contrast, in the next generation, a third of the female heterozygotes are mentally subnormal with an average of 29% fragile sites. These data suggest a premutation that generates the definitive mutation only when transmitted by a female. We propose an inherited sub-microscopic chromosome rearrangement involving the Xq27/8 region that causes no ill effect per se, but generates a significant genetic imbalance when involved in a recombination event with the other X chromosome. This hypothesis explains many of the puzzling genetic aspects of the Martin-Bell syndrome, but it also complicates the interpretation of linkage analysis with genetic markers.

Crossing Over, Genetic↗
PubMed1965

THE ROLE OF THE PRIMARY PHYSICIAN IN MENTAL RETARDATION.

Practicing physicians are called upon with increased frequency for the diagnosis and treatment of the mentally retarded. The syndrome is a complex health, education, social and vocational problem. Classification is generally based on the degree of impairment, the causation and the symptomatology. There are two major types of mental retardation. In one, the impairment is more severe and concomitant physical signs are frequent. In the other, the impairment is mild and somatic signs are absent. Diagnosis calls for careful developmental history, examination and a judicious use of laboratory and other tests. Early diagnosis and the establishment of cause have important therapeutic and preventive implications. Counseling of parents is an essential part of clinical work.

Counseling↗
PubMed1993

Institutionalization, involuntary sterilization, and mental retardation: profiles from the history of the practice.

For much of the 20th century, the practice of sterilization was a common accompaniment to institutionalization for individuals with mental retardation. Following the Supreme Court's decision in Buck v. Bell (1927) supporting the practice, numerous states passed legislation and, consequently, over 60,000 individuals with mental retardation were sterilized in this country. In the present study we analyzed data on 212 individuals in Virginia who were sterilized. Our focus included gender, age at and date of sterilization, level of mental retardation, and location of subsequent discharge. The nature of these findings within the general context of the practice of sterilization was discussed.

Adolescent↗
PubMed1993

The accuracy of predicting treadmill VO2max for adults with mental retardation, with and without Down's syndrome, using ACSM gender- and activity-specific regression equations.

The purpose of this study was to examine the validity of the American College of Sports Medicine's (ACSM) prediction equations for calculating peak oxygen consumption (VO2max) in young adults with mental retardation. A total of 32 subjects with mental retardation participated in this study: 15 young adults with Down's syndrome (DS) and 17 non-DS young adults (NDS). Subjects were matched for age, gender and intelligence quotient (IQ). Subjects were given a standard treadmill-graded exercise test to determine peak heart rate (HR) and peak oxygen consumption (VO2max). Subjects were connected to a metabolic cart during the test. Peak VO2 was predicted using ACSM's prediction equations where predicted VO2max is: men, 57.8-0.445 (age); and women, 42.3-0.356 (age). Statistical significance between groups was determined using a two-tail t-test, with alpha set a priori at 0.05. The DS group had a significantly (P = 0.0003) lower peak HR (DS 155.90 +/- 12.12 vs NDS 175.38 +/- 9.87) and per cent HR achieved (P = 0.0007) (DS 80.26 +/- 6.76 vs NDS 89.39 +/- 4.46) as compared to the NDS group. Differences were also found between groups with respect to peak oxygen consumption. The DS had a significantly (P = 0.006) lower peak oxygen uptake (ml kg-1 min-1) as compared to the NDS group (23.68 +/- 4.01 vs 31.00 +/- 7.11, respectively). Significant differences (P = 0.007) were accordingly observed with respect to per cent predicted oxygen uptake achieved (DS 55.22 +/- 10.61 vs NDS 73.27 +/- 19.15). A nearly two-fold difference (P = 0.01) was observed with respect to the functional aerobic impairment between the DS (44.79 +/- 10.61) and NDS (28.29 +/- 18.63) groups, further illustrating the impaired peak cardiovascular capacities of both groups. The results of this study indicated that use of the ACSM gender and activity specific prediction equations in young adults with mental retardation (DS and NDS), peak VO2 is significantly over-predicted (83.9 and 39.2%, respectively). Therefore, peak oxygen consumption and derived exercise prescriptions must be based on actual measurements, rather than via ACSM prediction equations. Otherwise, training intensities may be over-predicted and impose possible health risks.

Adult↗
PubMed1980

The vocational integration of the mentally retarded: a program to develop vocational maturity.

In many countries there are minimum standards for entry into vocational training programs, but until now there has been no instrument for determining whether retarded applicants possess the motor skills required to enter and complete such programs. To construct such an instrument, experts representing most of the skilled vocations in West Germany were consulted about typical skills required during the vocational education in their fields. Based on their responses, a catalog of essential skills was compiled and testing procedures (Handwerklich-Motorischer Eignungstest HAMET) were developed to determine vocationally-oriented motor skills for use in diagnostic and remedial programs for the retarded. A test administered to more than 100 mentally retarded youth showed significant and typical deficiencies in motor skills compared with those of non-retarded individuals. By using a factor analysis of the HAMET-items, it was possible to isolate elementary motor functions which are common to all the skilled vocations. Knowledge of these factors made it possible to start one-year training courses to develop vocational maturity. With selected exercises based on the HAMET-items the courses were very successful. In contrast to traditional programs for the mentally retarded it could also be shown that frequent changes of workshops and of vocational education staff are not necessary and that the entire training program can be carried out in one equipped workshop.

Adolescent↗
PubMed2003

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.

X-linked West syndrome, also called "X-linked infantile spasms" (ISSX), is characterized by early-onset generalized seizures, hypsarrhythmia, and mental retardation. Recently, we have shown that the majority of the X-linked families with infantile spasms carry mutations in the aristaless-related homeobox gene (ARX), which maps to the Xp21.3-p22.1 interval, and that the clinical picture in these patients can vary from mild mental retardation to severe ISSX with additional neurological abnormalities. Here, we report a study of two severely affected female patients with apparently de novo balanced X;autosome translocations, both disrupting the serine-threonine kinase 9 (STK9) gene, which maps distal to ARX in the Xp22.3 region. We show that STK9 is subject to X-inactivation in normal female somatic cells and is functionally absent in the two patients, because of preferential inactivation of the normal X. Disruption of the same gene in two unrelated patients who have identical phenotypes (consisting of early-onset severe infantile spasms, profound global developmental arrest, hypsarrhythmia, and severe mental retardation) strongly suggests that lack of functional STK9 protein causes severe ISSX and that STK9 is a second X-chromosomal locus for this disorder.

Base Sequence↗
PubMed2001

Confirmed, unconfirmed, and false allegations of abuse made by adults with mental retardation who are members of a class action lawsuit.

OBJECTIVE: The purpose is to explore differences in confirmed, unconfirmed, and false allegations of abuse made by consumers with mental retardation in regards to type of abuse and perpetrator. METHOD: Interviews were conducted with 1,220 people with mental retardation who were part of a class action lawsuit in North Carolina. A content analysis of abuse allegations was performed. Frequencies of responses and subgroup differences are reported for type of abuse allegation and perpetrator. RESULTS: Unconfirmed claims are the most frequent. Females made more allegations of abuse than males in general, and more allegations of rape. There are no significant differences among the subgroups (confirmed, unconfirmed, and false allegations) by type of abuse allegation. There are significant differences among the subgroups in regard to the alleged perpetrator. Other consumers with mental retardation are most frequently accused of confirmed assaults. Staff members are most frequently accused in false allegations. CONCLUSION: Ability of the alleged victim to report information and timing of the investigation are important factors in substantiating abuse. Awareness of consumer-to-consumer violence and prevalence of false accusations against staff necessitates increased safeguards for both consumers and staff.

Adult↗
PubMed1981

Effects of phenytoin withdrawal on matching to sample and workshop performance of mentally retarded persons.

The present study was designed to examine the effects of gradual phenytoin withdrawal on the matching to sample performance of three mentally retarded person. The percentage of correct responses per session served as the dependent variable, and the sample and comparison stimuli were red, green, and blue illuminations of translucent response windows. With two of the subjects, the sensitivity of a workshop assembly task to phenytoin effects was explored retrospectively. The dependent variables were percentage of time on task, number of completions, and number and type of prompts required per session. The results showed that doses of phenytoin considerably lower than the suggested optimum therapeutic level impaired the performance of mentally retarded individuals on both matching to sample and workshop assembly tasks. As doses were reduced for each subject, there were increases in the percentage of correct responding on the matching to sample task with the highest percentage correct being obtained after, and only after, the 0-mg dose was reached. In the workshop setting, the greatest number of assemblies completed and the lowest number of prompts required occurred only after the 0-mg dose was reached. The results are discussed in terms of generality, the tasks being well suited ot the study of drug effects with mentally retarded individuals, and implications for habilitation.

Adolescent↗