Search PubMed⌕ Search

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.

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

At least 181 records · Page 10Linked to original sources
PubMedDate not supplied

[Evaluation of genetic causes of mental retardation].

Causes of mental retardation that affects 1-2% of general population are numerous and heterogeneous and include genetic and environmental factors. Improvement of diagnostic techniques and progress made in mapping genes associated with specific mental retardation syndromes provide the possibility to make precise diagnosis in a proportion of mentally retarded individuals. The present study reviews the current diagnostic possibilities, highlights the problems involved in the diagnosis of mental retardation, providing practical guidelines for rational diagnostic approach and work up in individuals with mental retardation. Diagnosis is highly dependent on a detailed and comprehensive family and personal history, careful physical examination and long-term follow up of the children with developmental delay. Referral to specialised genetic units, where extensive evaluation based on rational selection of the specific investigations is possible, yields best diagnostic results.

Chromosome Aberrations↗
PubMed2000

Behavioral aspects of epilepsy in children with mental retardation.

Epilepsy and mental retardation, two relatively common childhood conditions, are both associated with a wide range of behavioral disorders. This article reviews the behavioral disturbances found in children with epilepsy, mental retardation, and both conditions. The behavioral disturbances found in children with epilepsy are associated with seizure-related, cognitive, developmental, and psychosocial factors. Although children with mental retardation also demonstrate a broad spectrum of behavioral disturbances, children with specific mental retardation syndromes have better-defined patterns of psychopathology. The presence of epilepsy and mental retardation seems to increase the severity of psychopathology. Further studies are needed, however, to define better the interaction of these two conditions and how they impact the behavior of children.

Autistic Disorder↗
PubMed1999

[Genetic causes of mental retardation--diagnostic possibilities].

Mental retardation is a life-long disability occurring in 2-3% of all children. Genetic causes are very heterogeneous and the clinical presentation most often non-specific. Current diagnostic tools can only identify a specific aetiology in 50-70%, and more importantly, often do not exclude a genetic cause in apparently sporadic cases of mental retardation. A proven genetic aetiology has many implications for the extended family. Fragile X syndrome is the most prevalent cause of inherited mental retardation and occurs in 2-6% of both females and males. Chromosomes and fragile X syndrome should be routinely investigated in patients with mental retardation of unknown aetiology. Molecular cytogenetics (FISH) provide specific diagnosis of several rare and clinically recognizable syndromes. Provision of extended clinical information is critical at referral, so that the most relevant investigations may be selected. Biochemical and molecular investigations can be performed for an increasing number of distinct but all very rare conditions associated with mental retardation. Efficient methods for simultaneous investigation of a panorama of rare biochemical and molecular abnormalities are now available and might improve the diagnostic yield considerably in the near future. We recommend a long-term diagnostic follow-up which allows us to apply modern methods and diagnose syndromes with phenotypes developing over several years.

Adult↗
PubMed1991

Acceptance of mental retardation and help-seeking by mothers and fathers of children with mental retardation.

Help-seeking preferences of parents of children with mental retardation were examined. A specially constructed Acceptance of Retardation Scale was administered to 25 fathers and 25 mothers. Respondents were asked to consider a number of need situations associated with their child's retardation and rate the likelihood that they would try to help themselves or seek external help from various sources. Results showed that mothers and fathers may have different help-seeking patterns. The fathers' help-seeking behavior seems to be instrumental, whereas mothers seem to be affected by ego considerations. Several demographic correlates of help-seeking behavior were also collected. Implications were discussed.

Adaptation, Psychological↗
PubMed2000

Does a peculiar EEG pattern exist also for FRAXE mental retardation?

OBJECTIVE: FRAXE mental retardation, a recently identified rare genetic condition, is due to a mutation of the FMR2 gene, located at Xq28 region. The phenotype is non-specific and characterized by developmental delay, speech, reading and writing problems, poor adaptive skills, anxiety, aggressiveness, obsessive-compulsive disturbance, and hyperactivity. The objective of this study was to describe the characteristic EEG pattern found in one patient with FRAXE mental retardation. METHODS: EEG (with photic stimulation and hand/foot tapping) and median nerve somatosensory evoked potentials were recorded in a 8-year-old male patient with FRAXE mental retardation (diagnosis confirmed by molecular genetic analysis) and speech disturbances. RESULTS: The patient never presented seizures; however, sleep enhanced multifocal spikes were found in the EEG. Moreover, tactile stimulation of hands and feet, as well as intermittent photic stimulation, provoked the appearance of spikes. Somatosensory evoked potentials from the median nerves showed a 'giant' component at around 60 ms. CONCLUSIONS: Considering the rarity of both FRAXE mental retardation and tactile evoked spikes, their association in the same subject might be considered as not casual. If confirmed by future studies, these neurophysiological findings might be considered as a marker for FRAXE mental retardation.

Brain↗
PubMed1986

Issues in the treatment of mentally retarded patients in the community mental health system.

Developmental disability, particularly mental retardation, both affects a person's cognitive functioning and places that person on an alternative track of development which, when combined with social, political and economic pressures, places the developmentally disabled person at increased risk for mental illness. The presenting symptoms of mental illness will be modified by the mentally retarded person's cognitive impairment, personality development, and massively different life experience, as will the nature of his interactions with helping agencies. Evaluation, diagnosis and treatment must evolve from an alliance with the mentally retarded persons, not with caretaking agencies, and must be modified to take into account the retarded person's powerlessness. The therapist must be prepared to act as both advocate and bridge-builder for the patient, with the patient's increasing participation. The therapist must be prepared to steer between the Scylla of ignorance about the diagnosis and treatment of mental illness in the mentally retarded and the Charybdis of financial disincentives for human service agencies to collaborate in their care. The advantages of inter-agency cooperation in the treatment of dually-diagnosed individuals is described and illustrated.

Adult↗
PubMed1976

Mental retardation in a national population of young men in the Netherlands. II. Prevalence of mild mental retardation.

The prevalence of mild mental retardation in 19-year-old survivors of male births during 1944-1947 is derived from military records. The data are singular in that they are national, virtually complete for a total population of more than 400,000 men and include attributes not previously examined. They allow for the simultaneous use of three criteria: education (history of special schooling), psychometric (Raven intelligence test score), and clinical diagnosis (ICD (1948) 325.2, 325.3), which yielded rates per 1000 of 30,58 and 61, respectively. Rates by all three criteria varied in similar fashion with father's occupation and with religious affiliation. Rates by the psychometric and diagnostic criteria were higher for rural- and urban-born, while rates by the special schooling criterion were lower for rural-born. These variations are presumed to indicate deficiencies in rural provisions of special schooling on the one hand, and a substantive increment in "true" prevalence on the other. Marked variations in rates by province are not accounted for by social class and urban/rural birthplace. A rise in rates in the 1947 birth cohort on the psychometric and diagnostic criteria but not on the schooling criterion is attributable to a scoring change in the IQ criterion. Relative risks are estimated for the psychometric criterion of low Raven test score according to father's occupation, urban-rural origin, and religious affiliation. The overlap of identification among individuals designated by one, two, or three of the criteria is examined, and the issue of labeling is explored.

Adult↗
PubMed2006

[Epidemiology of genetic mental retardation. An analysis of the needs, importance, aims, characteristics, value and limitations of a register of cases of mental retardation of genetic origin].

INTRODUCTION: The need to identify, quantify and classify the cases of mental retardation with a genetic origin (MRGO) has led the GIRMOGEN (Genetic Mental Retardation Research Group) to promote a computerised register of cases of MRGO. Aims and development. The fundamental goals of this work are to present the problem of MRGO from the epidemiological point of view and to argue for the need and importance of registering these pathologies. It also aims to analyse the usefulness and the different studies that can be implemented on the basis of a register of this kind, and to state the limitations of the register. CONCLUSIONS: The creation of case registers essentially built upon databases that can be updated online over the Internet is a novel methodology in the area of preventive medicine and public health. The process of constructing such a system is time-consuming and complex, and there are practically no references available in the literature concerning the theoretical aspects of its design and development. Before undertaking the building of a registry system of this kind, a prior analysis of the need for, as well as the importance, characteristics, value and limitations of the register must be carried out.

Humans↗
PubMed1981

Social-environmental factors as predictors of adjustment of deinstitutionalized mentally retarded adults.

Mentally retarded adults (N = 338) placed from five state institutions were studied 2 to 4 years, after they were placed in either foster family care or community residences. Factors of the social environment that were most predictive of individual adjustment were determined. Adjustment was defined as behavior in five areas of functioning: self-care, behavior control, community-living skills, use of community resources, and social support. Multiple regression analysis revealed that social environmental factors and other characteristics of community settings played an important role in individuals' adjustment. Important features of the social environment were similar across both settings.

Adolescent↗
PubMed1993

Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?

X-linked mental retardation (XLMR) can be subdivided into syndromic and nonsyndromic or nonspecific. Patients with non-syndromal XLMR show no characteristic manifestations, biochemical defects, or distinct fragile sites. Nevertheless, nonspecific XLMR seems to be heterogeneous. To determine the number and location of the genes responsible for XLMR, linkage studies in large pedigrees have to be performed. Here we report the data of linkage analysis in a large Brazilian family with 7 patients affected by a severe form of XLMR, with no other associated malformations. All the obligate carriers are normal. A close linkage without recombination (lod scores 1.95 and 3.25) was found between the disease locus and polymorphic DNA loci DXS255 (Xp11.22), DXS14 (Xp11.21). These results suggest that the gene responsible for the disease in this family maps in the Xp11-cent of the X chromosome. Positive lod scores in this region have also been reported for other XLMR genealogies, but with a much milder phenotype. The possibility of intragenic or locus heterogeneity is discussed.

Adolescent↗
PubMed1991

Managing dysphagia in mentally retarded adults.

Mentally retarded adults with dysphagia are a chronically disabled population with high incidence of co-occurring gastrointestinal and respiratory disorders. Their ability to achieve and maintain optimal functional adequacy of swallow is dependent on medical and nutritional management of the disorder, as well as on improving the swallow itself. This paper presents a dysphagia management protocol for this population, which includes screening to identify at risk individuals, diagnostic evaluation of dysphagia, daily management to promote optimal mealtime function, and dysphagia therapy to improve underlying neuromotor competency and eating skills.

Adult↗
PubMed2005

A heteroplasmic mitochondrial DNA 3310 mutation in the ND1 gene in a patient with type 2 diabetes, hypertrophic cardiomyopathy, and mental retardation.

A mentally retarded 57-year-old Japanese man with maternally-inherited type 2 diabetes was found to have hypertrophic cardiomyopathy (HCM) that was associated with pathological changes in the myocardial mitochondria. The mitochondrial DNA (mtDNA) of this patient was examined and a C3310 T mutation was found in the ND1 gene, which resulted in the substitution of serine for proline. The normal 3310 mtDNA band could not be detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in mtDNA from his myocardium, pancreas, cerebral tissue, skeletal muscle, and lymphocytes. However two clones sequenced from his pancreatic tissue did not show this C3310 T mutation while forty-eight did. Mitochondria isolated from the lymphocytes of his two sisters also had this mutation. mtDNA point mutations in the ND1 gene region reported thus far have been mostly homoplasmic. However, the C3310 T point mutation that was found in this patient was heteroplasmic, which is a high level of mutation and may represent the pathogenic gene that was responsible for causing mitochondrial disease.

Cardiomyopathy, Hypertrophic↗
PubMed1976

Low molecular weight proteinuria and slight hyperlipoproteinemia in three mentally retarded brothers.

Mental retardation in combination with proteinuria and a slight hyperlipoproteinemia was found in three brothers. The increased urinary protein excretion was dominated by albumin and the low molecular weight proteins retinol-binding protein (RBP) and beta2-microglobulin, indicating the presence of proximal tubular dysfunction. However, there was no glucosuria, phosphaturia or amino aciduria and the renal concentrating and acidification capacities were normal. A kidney biopsy in one of the patients revealed morphologic evidence of glomerular damage but a normal tubular structure. A mild hyper-beta-lipoproteinemia was found in the patients but not in their healthy siblings. The cause of this syndrome, hitherto not described, is unknown.

Adolescent↗
PubMed1979

Development of articulatory competence in mentally retarded children.

Mentally retarded children participated in a verbal stimulation program developed at the Institute for Psychophysiological and Speech Disorders, Belgrade, Yugoslavia. Intensive home therapy was associated with an increase in articulatory competence in both moderately and profoundly retarded children. The development of articulation differed between retardate groups as well as with the sequence of normal phonological production. The results suggest that the order in which wounds are introduced into the therapeutic program may be a critical factor in the over-all development of competent articulation.

Child↗
PubMed2006

[Pharmacological treatment of mental retardation].

INTRODUCTION: Mental retardation (MR) is defined by the simultaneous appearance of a low intellectual level and an inability to adapt to the demands of the surroundings, beginning either in childhood or during adolescence. Although it is to expected that in the future it will become possible to treat intellectual disability itself by pharmacological means, at present we can only act on the behavioural and neurological syndromes that accompany MR. DEVELOPMENT AND CONCLUSIONS: This review looks at the different pharmacological agents that may improve the problems that usually make it more difficult for a patient with MR to adapt within the family, at school and in the workplace. The neuropsychiatric disorders that most often require pharmacological treatment include attention deficit, hyperactivity, behavioural disorders, autism, anxiety, aggressiveness, self-injury and affective disorders. The most frequently used drugs are stimulants, atypical antipsychotics and selective serotonin reuptake inhibitors (SSRI). Their characteristics and application in the different situations that require medical attention are described. The pharmacological treatment of certain common genetic syndromes that involve MR and which are highly specific in their behavioural expression are also discussed.

Child↗
PubMed2006

[Autosomal dominant mental retardation].

INTRODUCTION: Mental retardation (MR) is a clinical condition that may be due to a large variety of causes, the most important of which are those of a genetic origin, owing to the repercussions they can have on the family. There are more than one thousand types of MR with a genetic origin, and they are not usually found in isolation. Different research studies have found a relation between genetically-originated MR and the presence of mutations in genes involved in the intracellular pathway that mediates in synaptic plasticity, learning and memory. DEVELOPMENT: There are genes that alter the flow of information between the membrane and the nucleus, as is the case of genes NF1 and TSC2, and others are needed to integrate the external signal within the inside of the cell, as is the case of gene DMPK. These three genes are implicated in neurofibromatosis type 1, tuberous sclerosis and Steinert's myotonic dystrophy, respectively, which are monogenic diseases that are transmitted by autosomal dominant inheritance and appear as different forms of MR, among other clinical features. CONCLUSIONS: Further studies of these diseases and the genes responsible for them will help to improve our knowledge about MR with a genetic origin.

Genes, Dominant↗
PubMed1989

[Chromosome aberrations in a group of mentally retarded persons].

Mental retardation (MR) is a frequent manifestation in patients referred to departments of medical genetics (OLG). At the OLG in Martin their number in the years 1981-1985 was 324, i.e. 21.22% of the total number of examined subjects. MR was found as one of the pathological symptoms (symptomatic MR) in 86.73% and as the only pathological manifestation (isolated MR) in 13.27%. Genetic factors were revealed in 59%, exogenous ones in 19%, and in 22% the aetiology was not unequivocally resolved. As to genetic factors, the most frequent cause were chromosomal aberrations (in 104 patients-53%), a monogenic character was found in 68 subjects (35%) and a multifactorial one in 24 (12%). As to chromosomal aberrations, in 102 cases autosomes were affected (91 times numerical and 11 times structural affection), in four subjects a numerical anomaly of genosomes was involved and once a combined aberration of an autosomal and gonosomal character. The authors give the character and number of different types of aberrations and the incidence of so-called chromosomal markers (12 cases) and they evaluate their causal relationship with MR. Further advances in the aetiological evaluation of genetic factors will be made possible by the introduction of strip methods with a high resolution technique (use of prophasic chromosomes), combined with hybridization in situ, cytogenetic methods for the detection of individuals with the fragile X-chromosome syndrome, and in particular the application of the technology of recombinant DNA for the diagnosis of clinical and genetic units at the gene level.

Chromosome Aberrations↗