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)

A group of 273 children and adolescents, aged 8 to 19 years, who had been treated for a congenital malformation during their 1st month of life, were studied using psychiatric interviews with the child and at least one of his parents. The child was also given a Wechsler intelligence test. The rate of psychopathological disturbance was as high as 49% (the classification used included organic brain disorder and mental retardation). Developmental deviations, psychoneurotic disorder and reactive disorder were the commonest types of disturbance (in 18, 17, and 11% respectively). Eleven percent were suffering from organic brain disorder and 8% had an IQ of no more than 50. The malformed children were compared with 509 children from the general population in terms of behaviour disturbance as rated by their teacher. Approximately one child in five in both groups presented behaviour problems, and behaviour was labelled as antisocial in 10% of children in both groups. The two groups of children did not differ significantly in regard to the family's social class, annual income, father's educational background, or the number of children in the family, but the parents of the malformed children had recieved psychiatric treatment more often than the control group parents.
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PMID:Psychiatric disorder in children with birth anomalies. A retrospective follow-up study. 95 30

One hundred and twenty patients presenting for admission were randomly allocated into two groups. Control patients received standard psychiatric hospital care and aftercare. Experimental patients were not admitted, if possible; they and their relatives were provided with comprehensive community treatment, including a 24-hour crisis service. Patients with a diagnosis of alcohol or drug dependence, organic brain disorder, or mental retardation were excluded. The great majority of patients were diagnosed as suffering from one of the functional psychoses--mainly schizophrenia. During the study year, control patients spent an average of 53.5 days in psychiatric hospitals, experimental patients spent an average of 8.4 days. Psychiatric patients were treated more effectively and economically in the community, without shifting the burden onto the relatives. Nearly all the relatives of experimental patients preferred community treatment; they considered it to be significantly more helpful to the patients and themselves than standard psychiatric hospital care and aftercare.
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PMID:The relatives of the mentally ill. A comparative trial of community-oriented and hospital-oriented psychiatric care. 608 34

One hundred and twenty patients presenting for admission were randomly allocated into two groups. Controls received standard hospital care and after-care. Projects were not admitted if this could be avoided; instead they and their relatives were provided with comprehensive community treatment and a 24-hour crisis service. Patients with a primary diagnosis of alcohol or drug dependence, organic brain disorder or mental retardation were excluded. During the 12 months study period, 96% of controls were admitted, 51% more than once. Of the projects, 60% were not admitted at all and only 8% were admitted more than once. Controls spent an average of 53.5 days in psychiatric hospitals; projects spent an average of 8.4 days. Community treatment did not increase the burden upon the community, was considered to be significantly more satisfactory and helpful by patients and their relatives, achieved a clinically superior outcome, and cost less than standard care and after-care.
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PMID:Psychiatric hospital versus community treatment: the results of a randomised trial. 657 88

One hundred and twenty patients presenting for admission to a state psychiatric hospital were randomly allocated into two groups. Control patients received standard hospital care and after-care. Experimental patients were not admitted if this could be avoided; instead they and their relatives were provided with comprehensive community treatment and a 24-hour crisis service. Patients with a primary diagnosis of alcohol or drug dependence, organic brain disorder or mental retardation were excluded. Most patients were suffering from psychotic disorders--more than half specifically from schizophrenia. During the 12 months study period 96% of the control patients were admitted--51% more than once. Of the experimental patients 60% were not admitted at all and only 8% were admitted more than once. Control patients spent an average of 53.5 days in psychiatric hospital, experimental patients spent an average of 8.4 days. Community treatment did not increase the burden upon the community, was considered to be significantly more satisfactory and helpful by patients and their relatives, achieved a clinically superior outcome, and cost less than standard care and after-care. The ingredients differentiating comprehensive community-based care from prevailing methods of psychiatric care are discussed.
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PMID:Community orientated treatment compared to psychiatric hospital orientated treatment. 674 Mar 35

There is usually a causal relationship between epilepsy and mental retardation when they coexist. The pathogenetic period of the underlying brain disorder and the time of seizure onset may, however, be widely separated. In 63 institutionalized mentally retarded epilepsy patients, 41% had seizure onset prior to the age of 2, 30% between the age of 2 and 20, and as many as 29% after the age of 20. Whereas uncontrolled epilepsy and cerebral palsy were frequently present in the group of early onset, most patients with adult onset had well controlled epilepsy, and none had cerebral palsy. Five of the 18 patients with adult onset epilepsy had Down's syndrome; in three of them, concomitant dementia was evident. In most patients with adult onset, however, no recent or current etiological factors for seizures were evident, except for their stable intellectual deficits. The incidence of adult onset epilepsy in the institution in 10 years markedly exceeded the expected rate. Twenty-three patients had achieved a prolonged remission of seizures and discontinued antiepileptic treatment. Sixty per cent of them remained seizure-free after at least two years. The mentally retarded should not unduly be subjected to drugs with potential central nervous side-effects.
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PMID:The diversity of epilepsy in adults with severe developmental disabilities: age at seizure onset and other prognostic factors. 789 38

Perinatal asphyxia (PA) is considered to lead to a variety of brain disorders including spasticity, epilepsy, mental retardation, and minimal brain disorder syndromes and may form the basis for psychiatric and neurodegenerative diseases later in life. We examined markers for neuronal transmission involved in the pathomechanisms of PA and candidates as mediators for long-term sequelae. We tested tyrosine hydroxylase (TH) and the vesicular monoamine transporter (VMAT) representing the monoaminergic system, the vesicular acetylcholine transporter (VAChT), and the excitatory amino acid carrier 1 (EAAC1), a neuronal subtype of the glutamate transporter, using immunohistochemistry on brain sections of rats subjected to graded PA. Three months following the asphyxiant insult immunoreactive (IR)-TH was decreased in striatum, hippocampus, thalamus, frontal cortex, and cerebellum; IR-VMAT was increased, and IR-VAChT was decreased in striatum. IR-EAAC1 glutamate transporter was increased in frontal cortex. The cholinergic, monoaminergic, and glutamatergic changes, still observed 3 months after the asphyxiant insult, may reflect their involvement in the pathomechanisms of PA and indicate mechanisms leading to long-term complications of PA. The variable consequences on the individual markers in several brain regions may be explained by specific susceptibility of cholinergic, monoaminergic, and glutamatergic neurons to the asphyxiant insult.
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PMID:Cholinergic, monoaminergic and glutamatergic changes following perinatal asphyxia in the rat. 1051 95

Mental retardation (MR) is a developmental brain disorder characterized by impaired cognitive performance and adaptive skills that affects 1-2% of the population. During the last decade, a large number of genes have been cloned that cause MR upon mutation in humans. The causal role of these genes provides an excellent starting point to investigate the cellular, neurobiological and behavioral alterations and mechanisms responsible for the cognitive impairment in mentally retarded persons. However, studies on Down syndrome (DS) reveal that overexpression of a cluster of genes and various forms of MR that are caused by single-gene mutations, such as fragile X (FraX), Rett, Coffin-Lowry, Rubinstein-Taybi syndrome and non-syndromic forms of MR, causes similar phenotypes. In spite of the many differences in the manifestation of these forms of MR, evidence converges on the proposal that MR is primarily due to deficiencies in neuronal network connectivity in the major cognitive centers in the brain, which secondarily results in impaired information processing. Although MR has been largely regarded as a brain disorder that cannot be cured, our increased understanding of the abnormalities and mechanisms underlying MR may provide an avenue for the development of therapies for MR. In this review, we discuss the neurobiology underlying MR, with a focus on FraX and DS.
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PMID:Dendritic pathology in mental retardation: from molecular genetics to neurobiology. 1668

Alternating hemiplegia of childhood (AHC) is a severe brain disorder, mainly characterised by episodes of hemiplegia, progressive mental retardation, and other severe paroxysmal and permanent neurological symptoms. Clinically and genetically, there is some overlap with sporadic (SHM) and familial (FHM) hemiplegic migraine, a severe monogenic subtype of migraine. Although no mutations were detected in the FHM1 CACNA1A and FHM2 ATP1A2 genes in sporadic AHC patients, a mutation was found in the FHM2 ATP1A2 gene in a family with AHC. Recently, a missense mutation was found in the SLC1A3 gene that encodes the glutamate transporter EAAT1, in a patient with alternating hemiplegia, episodic ataxia, seizures, and headache. Because of the remarkable clinical similarities and the potential role of glutamate in AHC, we analysed six sporadic patients with AHC for mutations in the SLC1A3 gene. No mutations were found. The SLC1A3 EAAT1 glutamate transporter gene does not seem to be involved in the pathogenesis of AHC.
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PMID:Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1. 1723 10

Autism is a brain disorder characterized by abnormalities in how a person relates and communicates to others. Both post-mortem and neuroimaging studies indicate the presence of increased brain volume and, in some cases, an altered gray/white matter ratio. Contrary to established gross findings there is no recognized microscopic pathology to autism. Early studies provided multiple leads none of which have been validated. Clinicopathological associations have been difficult to sustain when considering possible variables such as use of medications, seizures, mental retardation and agonal/pre-agonal conditions. Research findings suggest widespread cortical abnormalities, lack of a vascular component and an intact blood-brain barrier. Many of the previously mentioned findings can be explained in terms of a mini-columnopathy. The significance of future controlled studies should be judged based on their explanatory powers; that is, how well do they relate to brain growth abnormalities and/or provide useful clinicopathological correlates.
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PMID:The neuropathology of autism. 1791 28

Classical lissencephaly is a human developmental brain disorder characterized by a paucity of cortical gyration and thickening of the cortical gray matter, leading to severe epilepsy and mental retardation. Loss-of-function mutations in the microtubule-associated protein encoding genes, PAFAH1B1 (encoding the protein LIS1), DCX and TUBA1A have been implicated in the pathogenesis of the condition. Animal models are required to understand the basis of this disease, which is a challenge, given that mice normally have a smooth cortex. Recent advances toward this goal have come from stepwise reduction in gene function, deletion of redundant genes and acute gene inactivation using short hairpin RNA (shRNA). These approaches have implicated genes that regulate the microtubule cytoskeleton during neuronal division, migration and maturation.
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PMID:Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly. 1799 85


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