Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of suspected fatal physical abuse in which the cause of death was proved to be pulmonary embolism. A patient with mental retardation presenting aggressive behavior was admitted to a psychiatric hospital and was treated with major tranquilizers. She suddenly died subsequent to an angina-like attack. For several days before her death, she had been confined to her bed because of very low physical and mental activity. Bruises and abrasions were observed on the extremities, suggesting the recent restraints. There was no positive evidence of physical abuse. At autopsy, the cause of death was elucidated to be pulmonary embolism originating from thrombi in the left popliteal vein. This case indicates the risk of pulmonary embolism in immobilized patients in psychiatric hospitals.
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PMID:Pulmonary embolism: a case of sudden unexpected death in a psychiatric hospital. 1293 91

Nonsyndromic X-linked mental retardation (MRX) is a highly heterogeneous condition in which mental retardation appears to be the only consistent manifestation. According to the most recent data, 77 MRX families with a lod score of >2 have been mapped and eight genes have been cloned. We hereby report on a linkage analysis performed on a Greek family with apparently nonsyndromic MRX. The affected males have moderate to severe mental retardation, severe speech problems, and aggressive behavior. Two-point linkage analysis with 26 polymorphic markers spanning the entire X chromosome was carried out. We could assign the causative gene to a 27 Mb interval in Xq12-Xq21.33. The maximum LOD score was found for markers DXS1225, DXS8114, and DXS990 at 2.36, 2.06, 2.06, respectively at theta = 0.00. Recombination was observed for DXS983 at the proximal side and DXS6799 at the distal side. Nineteen other MRX families have been described with a partial overlapping disease gene interval in proximal Xq. No mutations were found in the MRX77 family for three known or candidate MRX genes, from this region OPHN1, RSK4, and ATR-X. These data indicate that the Xq12-Xq21.33 interval contains at least one additional MRX gene.
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PMID:A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33. 1294 71

Uncontrolled rage, while long associated with hypothalamic hamartoma, has not been as extensively studied as the epilepsy. Rage can be more detrimental to quality of life than seizures. It is now realized that behavior and aggression improve after a complete resection of the hypothalamic hamartoma correlating with a good seizure control post-surgically. We report on the longitudinal psychiatric history of a patient with hypothalamic hamartoma and rage whose severe and refractory epilepsy was ultimately treated by thalamic and intrahamartoma chronic stimulation. Our patient did not exhibit sham rage typical of hypothalamic lesions, but rather multifactorial aggressive bouts typical of challenging behaviors seen with mental retardation. The anxious and social features of the aggression suggest that psychiatric interventions, which have been neglected as the emphasis has been on seizure control, are worthwhile in the overall management of this difficult case.
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PMID:Psychiatric aspects of patients with hypothalamic hamartoma and epilepsy. 1497 91

Smith Magenis syndrome (SMS) is a clinically recognizable contiguous gene syndrome ascribed to an interstitial deletion of chromosome 17p11.2. The neurobehavioral phenotype of SMS includes mental retardation, speech delay, hyperactivity, attention deficit, decreased sensitivity to pain, self-injury, aggressive behavior and sleep disturbance. Therefore, we performed anatomical and functional brain imaging studies in five SMS boys. Anatomical magnetic resonance imaging (MRI) was analyzed using optimized voxel-based morphometry (VBM). This method can detect structural anomalies not apparent on visual inspection of the scans. Two comparison groups with similar mean age were studied: Group A with 12 healthy control children and Group B with 5 children with idiopathic mental retardation. In addition, positron emission tomography (PET) and water-labeled method were used to investigate a putative localized brain dysfunction in SMS. The control group was composed of mentally retarded children (Group B). A significant bilateral decrease of grey matter concentration was detected in the insula and lenticular nucleus in SMS children. In addition, a significant hypoperfusion was found in the same regions in SMS. These anatomo-functional evidences of bilateral insulo-lenticular anomalies in SMS are consistent with neurobehavioral symptoms of the disease. The identification of localized brain anomalies in SMS may help in understanding how this well-defined genetic entity can lead to a relatively specific severe neurobehavioral syndrome.
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PMID:Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith Magenis syndrome. 1500 69

The study of neurogenetic microdeletion syndromes provides an insight into the developmental psychopathology of psychiatric disorders. The aim of the study was to evaluate the prevalence of psychiatric disorders, especially obsessive-compulsive disorder (OCD), in patients with velocardiofacial syndrome (VCFS), a 22q11 microdeletion syndrome. Forty-three subjects with VCFS of mean age 18.3 +/- 10.6 years were comprehensively assessed using semi-structured psychiatric interview and the Yale-Brown obsessive compulsive scale (Y-BOCS). Best estimate diagnoses were made on the basis of information gathered from subjects, parents, teachers, and social workers. Fourteen VCFS subjects (32.6%) met the DSM-IV criteria for OCD. OCD had an early age of onset and generally responded to fluoxetine treatment. It was not related to mental retardation. The most common obsessive-compulsive symptoms were contamination, aggression, somatic worries, hoarding, repetitive questions, and cleaning. Sixteen of the 43 patients (37.2%) had attention-deficit/hyperactivity disorder (ADHD), and 7 (16.2%) had psychotic disorder. The results of our study suggest that there is a strong association between VCFS and early-onset OCD. This finding may be significant in the understanding of the underlying genetic basis of OCD.
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PMID:Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome. 1504 57

Attributional bias and social problem-solving deficits in two groups of adult males (aggressive vs. nonaggressive) with mild mental retardation were investigated. When presented with vignettes depicting various problem situations, aggressive participants were less accurate in correctly identifying interpersonal intent, characterized by more problem-solving deficits, and generated higher numbers of aggressive solutions to resolve problems as compared to their nonaggressive counterparts. The present results support the applicability of contemporary models of social information processing and adjustment with regard to reactive aggression to men with mental retardation.
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PMID:Aggression-related hostility bias and social problem-solving deficits in adult males with mental retardation. 1507 17

Aggression has become a problem of our everyday life; every psychiatrist meets aggressive patients in his practice almost daily. Aggression represents a special problem in the case of institutionalized, mentally retarded (severe and moderate) patients, when it is associated with agitation, deficit of critical functions, impulsiveness, mood disorders. The nursing staff of these institutions is often overworked; the affective outbursts and aggressive behavior of mentally retarded patients may provoke a hostile attitude on the part of the nursing staff towards the patients. In the case of mentally retarded patients, unpredictable events may occur at any time. The structural background of mental retardation, the function of the affected cerebral structures, is not completely clarified. It was found in several studies that risperidone is effective in the treatment of agitation and aggressive behavior; the incidence of side effects is much lower than in the case of typical antipsychotics. We started the treatment with risperidone of 60 mentally retarded patients; we evaluated the therapeutic outcome after a three-month follow-up period using a rating scale made specially for this purpose. An attempt was made to compare the therapeutic results obtained in the risperidone group with the condition of patients receiving typical antipsychotics. It was found that, in the case of several items (aggression, agitation, deficit of critical functions, mood disorders, sleep disturbances, involvement in therapeutic activities), risperidone was significantly more effective than typical antipsychotics, and the incidence of extrapyramidal symptoms and other adverse events was much lower. It was hardly necessary to impose restraints in the risperidone group. In the care of mentally retarded patients, the use of risperidone has many long-term advantages, and hence it represents an effective alternative to typical antipsychotics.
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PMID:[Experience with Risperidone in the treatment of institutionalized mentally retarded patients, with special reference to treatment of aggressive states]. 1512 10

Multi-sensory stimulation provided in a Snoezelen room is being used increasingly for individuals with mental retardation and mental illness to facilitate relaxation, provide enjoyment, and inhibit behavioral challenges. We observed aggressive and self-injurious behavior in three groups of 15 individuals with severe or profound mental retardation and mental illness before, during, and after being in a Snoezelen room. All participants were receiving psychotropic medication for their mental illness and function-derived behavioral interventions for aggression, self-injury, or both. Using a repeated measures counterbalanced design, each group of participants was rotated through three experimental conditions: Activities of Daily Living (ADL) skills training, Snoezelen, and Vocational skills training. All other treatment and training activities specified in each individual's person-centered plan were continued during the 10-week observational period. Both aggression and self-injury were lowest when the individuals were in a Snoezelen room, followed by Vocational skills training and ADL skills training. The levels in the Snoezelen room were significantly lower than in both the other conditions for aggression but only in ADL skills training for self-injury. The difference in levels before and after Snoezelen were statistically significant with self-injury but not with aggression. The order of conditions showed no significant effect on either behavior. Snoezelen may provide an effective context for reducing the occurrence of self-injury and aggression.
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PMID:Effects of Snoezelen room, Activities of Daily Living skills training, and Vocational skills training on aggression and self-injury by adults with mental retardation and mental illness. 1513 93

Rett syndrome (RTT) is an autistic spectrum disorder with a known genetic basis. RTT is caused by loss of function mutations in the X-linked gene MECP2 and is characterized by loss of acquired motor, social and language skills in females beginning at 6-18 months of age. MECP2 mutations also cause non-syndromic mental retardation in males and females, and abnormalities of MeCP2 expression in the brain have been found in autistic spectrum disorders. We studied home-cage behavior and social interactions in a mouse model of RTT (Mecp2(308/Y)) carrying a mutation similar to common RTT causing alleles. Young adult mutant mice showed abnormal home-cage diurnal activity in the absence of motor skill deficits. Nesting, a phenotype related to social behavior, and social interactions were both impaired in these animals. Mecp2(308/Y) mice showed deficits in nest building and decreased nest use. Although there were no differences in aggression or exploration of novel inanimate stimuli, mutant mice took less initiative and were less decisive approaching unfamiliar males and spent less time in close vicinity to them in several social interaction paradigms. The abnormalities of diurnal activity and social behavior in Mecp2(308/Y) mice are reminiscent of the sleep/wake dysfunction and autistic features of RTT. These data suggest that MECP2 regulates the expression and/or function of genes involved in social behavior. The study of Mecp2(308/Y) mice will allow the identification of the molecular basis of social impairment in RTT and related autistic spectrum disorders.
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PMID:Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. 1554 46

A 14-year-old boy was referred for a genetics evaluation after high-resolution chromosome analysis showed a small amount of extra material in the proximal long arm of chromosome 21. Five years prior, his karyotype analysis was interpreted as normal with a variant chromosome 21. The patient has short palpebral fissures, strabismus, flat antihelices of the ears, long thumbs with bilaterally absent interphalangeal creases, proximal bilateral 3/4 syndactyly, small testes, hypotonia, mental retardation, and speech problems. He has significant depression and behavioral problems including hyperactivity, aggression, and impulsivity. His 8-year-old brother has more severe behavioral disturbances and depression, but less significant mental retardation. A paternal aunt has mental retardation, is unusually docile, and appears similar to our patient. Chromosome analysis and fluorescence in situ hybridization (FISH) whole chromosome paint of chromosome 21 showed that the patient's father carries a "cryptic" balanced translocation, 46,XY, t(14;21)(q11.2;q11.2), as does the patient's paternal grandmother. Uniparental disomy studies using seven informative polymorphic nucleotide repeat markers from 14q and 21q confirmed biparental inheritance of the number 14 and 21 chromosomes for each brother, and indicate that they and the paternal aunt, all of whom inherited the der(14), are monosomic for proximal 21q and trisomic for proximal 14q. These karyotypes arose through an adjacent-2 segregation in the father on two occasions, and from the paternal grandmother on one occasion. This family is an example of recurrent malsegregation with translocations involving the acrocentrics.
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PMID:Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): phenotypic comparison of two brothers and a paternal aunt inheriting the der(14). 1555 40


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