SEARCH · Search PubMed

Results for “MENTAL RETARDATION”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

SourceResearch connectionFrom yearThrough year

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 703 records · Page 39Linked to original sources

PubMed2006

[Autosomal recessive diseases with mental retardation].

INTRODUCTION: Autosomal recessive diseases with mental retardation are disorders that affect autosomes, and their genetic expression occurs in individuals who are homozygotic for a mutation, while heterozygotic subjects are unaffected carriers. If both parents are carriers, the theoretical possibility of their children also being carriers is 50%, the risk of the children being affected by the disease is 25%, and there is a 25% chance of their being healthy. They are an important source of mental deficiencies and inborn errors of metabolism (IEM) are some of their characteristic syndromes. DEVELOPMENT: The genetic disorders known as IEM can be classified according to the metabolism they affect, that is, purines, pyrimidines, amino acids, and so on. One of the lysosomal disorders is Tay-Sachs disease, which is rare among the general population but is very frequent in populations with a high rate of consanguinity, such as the Ashkenazi Jews. One of the most notable disorders affecting the metabolism of amino acids is the case of phenylketonuria due to mutations in the phenylalanine hydroxylase gene (PAH). It accounts for 0.5-1% of mental diseases and appears with a frequency rate of between 1/11,500 and 1/14,000 in newborn infants. Its early diagnosis through neonatal screening programmes makes it possible to start administering a phenylalanine-free diet and thus prevent mental retardation. CONCLUSIONS: Knowledge of this kind of autosomal diseases with neurological involvement, together with their correct and early diagnosis, makes it possible to establish suitable treatment regimens in some cases and to carry out genetic counselling in all of them.

Brain Diseases, Metabolic, Inborn↗

PubMed1975

Abnormal organic acidurias in mentally retarded patients.

Urine specimens from 1778 mentally retarded patients and 420 age and sex matched non-retarded controls selected from a general practice have been analysed for non-amino organic acids by a quantitative extraction and gas chromatographic method. The compounds were identified by combined gas chromatography and mass spectrometry. Approximately 5% of the patients had an abnormal organic aciduria. The frequency of abnormalities was slightly higher (about 7%) in a group of 248 severely subnormal children, but not in cases with a family history of mental retardation, retarded sibs, or whose parents were consanguineous. The most frequently observed abnormalities were phenylalanine metabolites in cases of phenylketonuria (about 1%), increased excretion of benzoic acid (about 1%), and increased excretion of 2-oxoglutaric acid with or without raised urinary citric-acid levels (about 1%). The biochemical and clinical significance of these findings is being further investigated.

Acidosis↗

PubMedDate not supplied

Gynecological care for women with mental retardation.

Gynecologic care of women with mental retardation often is overlooked because of the physical and ethical difficulties involved in providing such care. Nurse practitioners can use their assessment skills to understand these women better and provide safe care for them. Fertility and hygiene problems can be helped with medroxyprogesterone or low-dose contraceptives. Examinations can be accomplished by using a combination of desensitization classes and sedatives. Clinicians using such a protocol have been able to examine mentally retarded residents at Tacachale (a community for developmentally disabled people in Florida) without the use of general anesthesia.

Adult↗

PubMed1995

Family-centered/interdisciplinary team approach to working with families of children who have mental retardation.

Working with children who have mental retardation and their families is challenging and rewarding. When these children also have behavioral/psychiatric problems, the challenge is far greater. An interdisciplinary team is needed for comprehensive assessment, treatment, and management in order to be successful in accomplishing goals, providing continuity of care, and supporting the family in the community. In this paper we focused on the interdisciplinary team concept blended with the family-centered approach in a psychiatric setting and provided a case study of a family who had a child diagnosed with mental retardation, autism, and severe behavior problems. Practical suggestions were given to demonstrate the implementation of a family-centered/interdisciplinary team approach.

Adolescent↗

PubMed1995

Issues in the taxonomy of psychopathology in mental retardation.

Several factors appear to impede the development of a valid taxonomy of psychopathology in children and adolescents with mental retardation. These include (a) the lack of a widely accepted definition of psychopathology in mental retardation, (b) disagreement on the nature of the relationship between mental retardation and psychopathology, and (c) insufficient evidence for the reliability and validity of current DSM or ICD systems in this population. In this article, we offer a definition of psychopathology in children with mental retardation; review concepts of the relationship between psychopathology and mental retardation; argue that in moving toward a valid taxonomy factors to be considered should include data from multivariate studies, findings related to behavior phenotypes, and diagnostic considerations with stereotypic behavior and self-injury, organic brain syndromes and pervasive developmental disorders. Finally, we outline a research strategy that may serve as a useful framework for developing a valid taxonomy of psychopathology in this population.

Adolescent↗

PubMed1993

Parenting provided by adults with mental retardation.

Studies assessing the quality of parenting provided by adults with mental retardation present conflicting conclusions. Some consider the majority to be doing reasonably well, whilst others report frequently unsatisfactory caretaking. There are a number of reasons for such different views. First, inconsistent selection criteria make it hard to compare across studies. In particular, sample composition will be influenced by the recruitment source. For example, if parents have been chosen from voluntary educational programmes a rather different picture is likely to be found than if they have been selected from individuals known to, or referred by, statutory agencies. On the whole, authors working with subjects from the former source have been rather more optimistic than those working with parents referred because there were already serious concerns about parenting difficulties or about delayed child development. Secondly, the majority of studies have used poorly defined global measures of parenting, with variable criteria of what constitutes adequate care. Some have concentrated on physical care and hygiene, whilst others have looked for the presence of affection and warmth. A child's reception into care as the sole measure of the quality of parenting is an unsatisfactory criterion because parental retardation has itself occasionally been used as the basis for removal of a child into care, even in the absence of other evidence of neglect or abuse. Thirdly, methodological flaws are found in studies that have used observational assessments of parenting. Such studies have suggested mothers with mental retardation tend to lack interactive skills (such as high levels of praise and imitation, and low restrictiveness) which are known to be associated with optimal child development. Control groups have often not been matched on social and other variables which might be expected to exert a significant influence upon parenting practices. In addition, the generalisability of these observational studies is open to question as parenting style has been adduced from brief play sessions, lasting at the most 10 minutes. The extent to which mothers with mental retardation play spontaneously with their children at home in a stimulating and age-appropriate fashion has not been measured. With regard to the evidence on abuse and neglect, questions have been raised about whether the children of parents with mental retardation are at increased risk. This problem has rarely been addressed in a methodologically satisfactory way. First, most studies have drawn their samples from referrals to medical or psychiatric departments. Secondly, as indicated earlier, reception into care cannot by itself be taken to be an indicator of child abuse.(ABSTRACT TRUNCATED AT 400 WORDS)

Adult↗

PubMed2005

Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.

Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features: Cryptic aberrations involving the subtelomeric regions of chromosomes are thought to be responsible for idiopathic mental retardation (MR) and multiple congenital anomalies, although the exact incidence of these aberrations is still unclear. With the advent of chromosome-specific telomeric Fluorescence In Situ Hybridization (FISH) probes, it is now possible to identify submicroscopic rearrangements of distal ends of the chromosomes that can not be detected by conventional cytogenetic methods. In this study, cryptic subtelomeric chromosomal aberrations were detected in two of ten patients with idiopathic MR and dysmorphic features by using FISH probes of subtelomeric regions of all chromosome arms. A cryptic unbalanced de novo translocation was detected between the subtelomeric regions of the chromosome 10p and 18p in a patient with severe mental retardation, sensorineuronal deafness and several dysmorphic features. In the other patient, with mild mental retardation and dysmorphic features, a de novo subtelomeric deletion of chromosome 2q was found. In conclusion, in both familial and sporadic cases with idiopathic MR and dysmorphic features, the detection of chromosomal aberrations including subtelomeric rearrangements is of great importance in offering genetic counseling and prenatal diagnosis.

Abnormalities, Multiple↗

PubMedDate not supplied

A field work experience in mental retardation.

A graduate student specializing in mental retardation found few pertinent electives as well as little opportunity for field work experience. A special arrangement was made for appropriate field work experiences in three types of settings--a large residential institution, school programs, and nursing care facilities. There was little time to view client changes, and rapport with patients and staff was difficult to develop. The advantages included more time with her supervisor, more exposure to organizational and administrative duties, and more exposure to a variety of settings and to the professional roles of numerous therapists. More such field work experiences should be developed to encourage new therapists to choose mental retardation as a specialty.

Adolescent↗

PubMed1994

Development of a psychopathology rating scale for children with mental retardation.

A total of 583 children and adolescents with mental retardation were rated on a new psychometric instrument designed to screen for dual diagnosis (psychopathology in individuals with mental retardation). Two psychiatrists and two clinical psychologists judged the items to have face validity as expressions of psychopathology in children and adolescents with mental retardation. Cronbach's alpha coefficient was .91 for the total score and varied between .57 and .86 for 10 psychometric scales. Children and adolescents who had a dual diagnosis obtained total scores approximately 1 standard deviation higher than those who did not have a dual diagnosis. Each of 4 diagnostic groupings had test profiles in accordance with expectation. The results suggest that the instrument is particularly well suited for use in screening and for help in the analysis of the relationships between certain behavior problems and psychopathology.

Adolescent↗

PubMed1992

Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism.

A mildly dysmorphic, mentally retarded male with neurofibromatosis 1 (NF1) was found to have a de novo deletion of chromosome 17. The deletion occurred on the paternally derived chromosome 17 as shown by the absence of a D17S73 paternal allele. Densitometric analysis indicated that, in addition to the D17S73 locus, the patient has only one copy of four other adjacent loci. The deletion involved the loci D17S120, NF1, D17S57, D17S115, and D17S73 and was estimated to encompass more than 380 kb of DNA. The deletion of the entire paternal NF1 allele argues strongly that this disorder is not caused by the action of an abnormal NF1 protein. The extent of the deletion suggests that the mental retardation and dysmorphism of this patient may result from a deletion involving both the NF1 gene and contiguous genetic material.

Abnormalities, Multiple↗

PubMed1991

Trends in classification usage in the mental retardation literature.

Trends in classification usage were analyzed through examination of all issues of Mental Retardation, American Journal of Mental Deficiency, and American Journal on Mental Retardation from 1980 through 1989. The research was undertaken to determine whether the recommendations by Taylor (1980) and MacMillan, Meyers, and Morrison (1980) regarding subject description had been implemented. Results indicated that the system of the American Association on Mental Retardation (previously the American Association on Mental Deficiency) was used in over 50% of the articles, whereas the American Educators system was used in only 10%. A further analysis regarding the use of various classification systems as a function of the age of the subjects was also conducted. Implications of these results were discussed.

Adolescent↗

PubMedDate not supplied

Retinal detachment in the mentally retarded.

PURPOSE: To report the clinical features and surgical outcomes of retinal detachment in mentally retarded patients. METHODS: Retrospective review of records of mentally retarded patients who had retinal reattachment surgery at the authors' institutions between February 1994 and February 2000. There were 8 patients with 13 surgically treated eyes. Demographic and clinical data were abstracted from the patients' medical records. RESULTS: The retina of 12/13 (92%) eyes remained reattached after a follow-up ranging from 9 to 78 months. In 6 eyes of the 4 patients whose visual acuity (VA) could be determined, VA improved in 5 eyes of 3 patients. In the remaining 4 patients whose VA could not be determined, improved behavioral patterns suggesting a successful surgical outcome were observed in 3 patients with bilateral retinal detachment, although in one of these patients only unilateral retinal reattachment was achieved. The findings in the eyes in this study agree with the findings in reports on patients with traumatic retinal detachment. CONCLUSIONS: The retinal reattachment rate is fair in the mentally retarded compared with the rate in other segments of the population. Ophthalmological examinations should be provided regularly for mentally retarded persons to keep open the possibility for early sight-improving surgery.

Adult↗

PubMed1991

Group psychotherapy with mentally retarded adults: issues related to design, implementation, and evaluation.

Although the mental health needs of mentally retarded persons are becoming increasingly acknowledged by service providers, psychotherapy is still neglected as a treatment modality. This paper provides a framework for considering issues related to the design, implementation, and evaluation of group psychotherapeutic endeavors to benefit dually diagnosed clients. A social systems approach to psychopathology is described to illustrate how a variety of potentially treatable aspects of dysfunctioning can be identified and selected as treatment goals for group psychotherapy with mentally retarded individuals. Treatment models are presented to assist in the pragmatic blending of behavioral and psychodynamic interventions that are relevant for conducting group psychotherapy with this population. Administrators and clinicians are provided with a prototype of how to establish and maintain cost-effective linkages between mental health and mental retardation agencies, so that dually diagnosed clients are not excluded from receiving services they need. Finally, process and outcome evaluation strategies are considered which might provide an empirical basis for documenting the effectiveness of group psychotherapy as a viable, nondrug approach to treating psychopathology in mentally retarded individuals.

Humans↗

PubMed2001

Alterations of amino acids and monoamine metabolism in male Fmr1 knockout mice: a putative animal model of the human fragile X mental retardation syndrome.

The Fragile X syndrome, a common form of mental retardation in humans, is caused by silencing the fragile X mental retardation (FMR1) gene leading to the absence of the encoded fragile X mental retardation protein 1 (FMRP). We describe morphological and behavioral abnormalities for both affected humans and Fmr1 knockout mice, a putative animal model for the human Fragile X syndrome. The aim of the present study was to identify possible neurochemical abnormalities in Fmr1 knockout mice, with particular focus on neurotransmission. Significant region-specific differences of basal neurotransmitter and metabolite levels were found between wildtype and Fmr1 knockout animals, predominantly in juveniles (post-natal days 28 to 31). Adults (postnatal days 209 to 221) showed only few abnormalities as compared with the wildtype. In juvenile knockout mice, aspartate and taurine were especially increased in cortical regions, striatum, hippocampus, cerebellum, and brainstem. In addition, juveniles showed an altered balance between excitatory and inhibitory amino acids in the caudal cortex, hippocampus, and brainstem. We detected very few differences in monoamine turnover in both age stages. The results presented here provide the first evidence that lack of FMRP expression in FMRP knockout mice is accompanied by age-dependent, region-specific alterations in neurotransmission.

3,4-Dihydroxyphenylacetic Acid↗

PubMed2005

Unexplained mental retardation: is brain MRI useful?

BACKGROUND: Mental retardation (MR), defined as an IQ below 70, is a frequent cause of consultation in paediatrics. OBJECTIVE: To evaluate the yield of brain MRI in the diagnostic work-up of unexplained MR in children. PATIENTS AND METHODS: The MRI features and clinical data of 100 patients (age 1-18 years) affected with non-progressive MR of unknown origin were compared to an age-matched control group (n=100). Two radiologists conducted an independent review of the MRI scans. RESULTS: Univariate and multivariate analyses showed a higher incidence of brain anomalies in the MR group than in the control group (53 vs 17, OR=5.7 [2.9-11.1]), for signal abnormalities within the periventricular white matter (OR=20.3 [2.6-155.3]), lateral ventricular dilatation (OR=15.6 [2.0-124]), mild corpus callosum abnormalities (shortness, atrophy) (OR=6.8 [1.8-25.6]) and subtle cerebellar abnormalities, including fissure enlargement (OR=5.2 [1.1-26.2]). The diagnostic value of MRI abnormalities was considered good in 5% of patients (Alexander disease n=1, diffuse cortical malformation n=1, leukomalacia n=1, vermian agenesis n=1, commissural agenesis n=1), and weak in 48% of patients, in whom non-specific abnormalities did not lead to a diagnosis. Some clinical features resulted in a significantly higher percentage of abnormal MRI scans: abnormal neurological examination (82% vs 47%, P=0.008), abnormal skull circumference (66% vs 49%, P=0.04). Motor delay was associated with cerebellar abnormalities (P=0.01). CONCLUSIONS: This study confirms the weak diagnostic yield of MRI in mentally retarded children. The use of a control group has enabled us to identify the neuroimaging markers frequently associated with MR. Subgrouping patients according to neuroimaging markers and clinical signs should help identify those who would benefit from molecular studies.

Adolescent↗

PubMed1984

Effects of antiepileptic drugs and seizure type on operant responding in mentally retarded persons.

The performance of 129 mentally retarded persons was studied on a progressive fixed-ratio schedule of reinforcement. Subjects were selected according to antiepileptic drug (AED) regimen or membership in one of four control groups. The AEDs studied were: phenobarbital (PB); phenytoin (PHT); PB in combination with PHT (PB/PHT); and valproic acid (VPA) in combination with other AEDs . The control groups were: persons without seizure disorders and on no medications (control); persons without seizure disorders, but on the chronic medication thioridazine ( TDZ ); persons with histories of one or more seizures and treatment with PB and/or PHT, but currently on no AEDs ; and, to control for the effects of multiple AEDs , persons on multiple drug regimens (i.e., PB and/or PHT in combination with carbamazepine and/or ethosuximide). Except for the VPA group, response rates per minute were decreased in high intelligence quotient (greater than 40) persons receiving AEDs or with a history of treated seizures. Deficits in responding were particularly marked in persons with partial seizures. Persons on VPA responded at rates comparable with those of the control and TDZ groups, unless they had partial seizures. This effect was independent of seizure frequency and was inversely related to serum level. Persons on PB most frequently exhibited frustration responses during testing, and when these occurred they were rated as being significantly more severe. Persons on PB also most frequently elected to "leave the experiment" and did so primarily for reasons thought to reflect deficits in inhibition. These results suggest that operant tasks can be sensitive to both AED effects and to underlying alterations of function that accompany seizure disorders in the mentally retarded.

Adolescent↗

PubMed1993

Children with cleft lip/palate and mental retardation: a subpopulation of cleft-craniofacial team patients.

This study compares a subpopulation of persons with cleft lip/palate who have mental retardation (n = 56) to those with normal learning (n = 420), at a large university-based cleft-craniofacial center. Many of the patients identified as having mental retardation in this sample have the diagnosis of isolated cleft palate (46.8%). Nearly half (46.3%) of the patients with mental retardation were found to have multiple anomalies, syndromes or associated medical findings. Common findings included cardiopulmonary defects, seizures, and deviations in head size. In this clinic population, mental retardation was found more commonly among African-American patients with clefts, than among Caucasian patients with clefts. Higher rates of facial disfiguration and impaired speech were found in patients with clefts and mental retardation. This research demonstrates that among a population of persons with cleft lip and/or cleft palate, there is a subpopulation of children who also have mental retardation. Craniofacial-cleft teams will need to develop strategies to address the special needs of this group of patients.

Abnormalities, Multiple↗

PubMed1992

Subtest profiles of the WISC-R and WAIS in mentally retarded patients with epilepsy.

In this study, WISC-R and WAIS subtest profiles of mentally retarded patients with epilepsy are analysed with respect to the Verbal-Performance IQ Discrepancy scores and rank order of mean subtest scores. The relative strengths and weaknesses in cognitive patterns of this sample are compared with subtest profiles mentioned in the literature on mentally retarded populations and samples of normal intelligent patients with epilepsy in order to determine the impact of epilepsy factors on cognition. The results indicate that people with mental retardation have problems with the verbal subtests Arithmetic, Vocabulary and Information, while patients with epilepsy have problems with Coding (Digit Symbol), Digit Span and Information. For this sample of mentally retarded patients with epilepsy, the most difficult subtests are Digit Span and Coding. The results concerning subtest profiles in different populations are discussed in light of the deleterious impact of epilepsy on cognition, which may superimpose the general effect of brain damage in mentally retarded patients. It is suggested that especially attentional processes, as measured with the subtest Coding, are vulnerable for epilepsy factors.

Adolescent↗