Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Peripheral vasodilatation with increased cardiac output, tachycardia and increased blood pressure are described after alcohol administration. An increased HDL-cholesterol is found in moderate drinkers (both HDL-2 and HDL-3 fractions), with diminishing risk of coronary heart diseases. Acute ethanol intake causes an increased the level of triglycerides without changes in HDL-cholesterol level. This may be put into correlation with higher incidence of cardiovascular diseases in so-called "week-end" drinkers. Alcohol abuse may result in central diabetes insipidus. An increased elimination of lactate diminishes tubular secretion of uric acid with subsequent secondary hyperuricemia. Ethanol reduced the number of lymphocytes, reduces phagocytosis by macrophages and diminishes the activity of NK-cells. Bone marrow cellulity diminishes with the subsequent reduction in erythropoiesis, trombopoiesis and leukopoiesis. Alcohol may cause sideropenic and megaloblastic anemia. There are two forms of alcohol muscle injury: the acute one, with myonecrosis and inflammatory reaction, and chronic one, with muscle weakness and atrophy. Alcohol is one of etiologic factors of osteoporosis. An acute intoxication result in transitory hypoparatthyreoidism, while chronic ethanol intake make grow the PTH level and decreases the level of D vitamin metabolises. Stimulation of cortisol secretion, decrease of testosterone level and a reversible decrease of T3 and T4 levels have been described following ethanol administration. Hypothalamic-pituitary-adrenal axis suffers alteration in alcoholics, and secondary amenorrhea is observed in female alcoholics. Ethanol behaves as an agonist on GABA receptor. Fetal alcohol syndrome together with Down's syndrome and spina bifida are the most frequent reasons of mental retardation in developed countries. Toxicity of ethanol affects the whole pregnancy period.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Ethanol metabolism and pathobiochemistry of organ damage--1992. IV. Ethanol in relation to the cardiovascular system. Hematologic, immunologic, endocrine disorders and muscle and bone damage caused by ethanol. Fetal alcohol syndrome]. 799 17

In this study we evaluated whether arsonists (n = 98) differ from homicide offenders (n = 55) in regard to psychiatric disorders, suicidality, and criminal responsibility in the context of forensic psychiatric pretrial examinations. Arsonists were mainly male, poorly educated, unemployed, and living in rural areas. Eighty-four percent of the arsonists and 62 percent of the homicide offenders had an alcohol abuse problem. This difference was statistically significant (p = .002). The arsonists more commonly had suicidal thoughts and attempted suicides. Over one-third of the arsonists used fire-setting as a suicide attempt. In comparing the arsonists with the control group, there was a statistically significant difference in the variables that indicate suicidality. Arsonists more commonly had diagnosed psychiatric diseases (p = .008). The incidence of psychoses was fourfold, chronic or severe depression about threefold, and mental retardation twofold when compared with the homicide offenders. Eighty-five percent of the arsonists had received psychiatric care before the crime was committed. The arsonists were more often found to be not criminally responsible for the crime committed (p = .01).
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PMID:The mental state of arsonists as determined by forensic psychiatric examinations. 863 82

Deficiency of cystathionine beta-synthase (CBS) is the commonest cause of primary homocystinuria. Homocysteine metabolism is intimately linked with the metabolism of folate, vitamin B12 (cobalamin) and pyridoxine. It is hypothesised that the pathogenesis of neuropsychiatric manifestations in homocystinuria, folate and cobalamin deficiencies are related to imbalance neurotransmitters in the CNS through disturbances in the pathways linking the metabolism of homocysteine and these vitamins. Although neuropsychiatric disorders are relatively common among patients with homocystinuria, it is not well recognised as the causative factor among patients presenting with neuropsychiatric disorders. A 31 year old woman presented with a three week history of delirium and inappropriate and labile affect. There was no history suggestive of drug or alcohol abuse, nutritional deficiency or organic disorders. EEG, cerebral CT, MRI and microbiological investigations did not reveal any organic causes. Because of a diagnosis of pyridoxine-responsive homocystinuria seven years previously, the possibility of homocystinuria was considered and investigated. Laboratory tests revealed macrocytosis and a high concentration of urinary total homocystine. Commencement of pyridoxine at 400 mg/day resulted in disappearance of homocystine in urine within four days with remarkable clinical improvement. Homocystinuria should be considered in the differential diagnosis of unexplained neuropsychiatric disorders in patients who have past or family history of homocystinuria, mental retardation, thromboembolic episodes, vascular diseases or clinical and laboratory features resembling folate and/or vitamin B12 deficiencies. Homocystinuria-associated neuropsychiatric disturbances can easily be treated with pyridoxine in 50% of cases.
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PMID:Homocystinuria and psychiatric disorder: a case report. 1050 67

Fetal alcohol syndrome (FAS) is a specific polydystrophic pattern of malformations with the following diagnostic criteria: 1. Maternal alcohol dependence or alcohol abuse during pregnancy. 2. Pre- and postnatal deficiency of growth in weight, height and head circumference. 3. Multiple minor and major anomalies recognizable mainly at a typical face. 4. Structural injuries and changes at the central nervous system with complex brain dysfunction combining elements of cognitive impairments, behavioral disturbance and neurological damage. Fetal alcohol effects (FAE) or so-called "alcohol-related neurodevelopmental disorders" (ARND) with predominant neurotoxic effects and a large spectrum of cerebral dysfunctions are manifold more frequent than the full-blown FAS. These remain mostly unrecognized, overlooked and they are difficult to be diagnosed, the symptoms being unspecific. Alcohol in pregnancy is nowadays the most important and the most frequent toxic substance for the embryo and the fetus and one of the most frequent causes of mental retardation. The longlasting and irreversible consequences refer to school development, social maturation, social behaviour and later life-style. The diagnosis is based on the careful maternal history and on the clinical findings; there are no biochemical parameters of assessment. The risk of addiction development in these children is assumed to be more than 20 percent.
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PMID:[Alcohol and pregnancy--embryopathy and alcohol effects]. 1080 85

Sudden unexpected death in epilepsy (SUDEP) refers to sudden unexpected death in patients with epilepsy in whom autopsy fails to reveal an anatomic or toxicological cause of death. The purpose of this study was to examine associated factors and mechanisms relating to SUDEP in Victoria. The study was a retrospective study based on data from questionnaires completed by treating doctors and coronial files including police reports of death, autopsy and toxicology reports. The deaths were of people with epilepsy in Victoria that were referred to the coroner between 1991 and 1997. There were 15,751 coronial autopsies of which 357 had epilepsy and 50 (14%) were SUDEPs. The SUDEP rate was approximately 1 per 3000 epileptics per year. This study suggested the following associations: young age, tonic-clonic seizures, seizure frequency greater than 10/year, duration of epilepsy greater than 10 years, mental retardation, psychiatric disease and alcohol abuse. Antiepileptic drug (AED) compliance was rated by treating doctors as good in 24 cases. One or more postmortem AED drug levels was subtherapeutic in 30 of 50 cases. Only 5 were receiving psychotropic drugs; only 1 of these was receiving more than one of these drugs. A history of recent unusually stressful life event was present in only 4 cases. At least 11 showed evidence of terminal seizure, and the majority of events occurred in sleep. These observations support the hypothesis that seizures are the mechanism of many cases of SUDEP. The associations observed were largely in agreement with previous studies. However, seizure frequency was greater and duration of epilepsy greater than most previous studies. The role of factors such as AED compliance, psychotropic drug prescription and recent unusually stressful life event is less clear. This highlights the need for case-control studies of risk factors for SUDEP.
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PMID:Sudden unexpected death in epilepsy in Victoria. 1084 48

The adverse effects of alcohol on the developing human comprise a spectrum of structural anomalies and behavioral and neurocognitive disabilities, most accurately termed fetal alcohol spectrum disorders (FASD). We previously have proposed revisions to the 1996 Institute of Medicine Diagnostic Criteria for diagnoses in the FASD continuum [fetal alcohol syndrome (FAS), partial fetal alcohol syndrome (PFAS), alcohol related birth defects (ARBD), and alcohol related neurodevelopmental disorder (ARND)], allowing for more reproducible and accurate FASD diagnosis in a clinical setting [Hoyme et al., 2005]. The NIAAA recently has coordinated and funded an international consortium of projects aimed at more complete characterization of the teratogenic spectrum of alcohol. One of the projects sites is in Finland. The aims of this project are: (1) to completely clinically characterize the structural and learning/behavioral phenotypes of a large cohort of older children and adolescents with moderate to severe disability within the FASD continuum; (2) to correlate FASD dysmorphology and behavioral phenotypes with CNS structure and function (i.e., MRS, MRI correlations); (3) to compare the phenotype of a genetically homogeneous population of Finnish children with FASD to that observed in other populations. We have recently completed dysmorphology examination and parent/guardian interviews of the 77 children in the Finnish cohort. The purpose of this report is to present historical and morphometric data on these patients, thereby more completely delineating the clinical spectrum of FASD in older children and adolescents, contrasting the phenotype with that described in other populations and examining whether a weighted dysmorphology score could be used as a clinical and research adjunct when fetal alcohol exposure is being suspected. All children were previously diagnosed with FASD by an experienced pediatric specialist in Finland, and all were exposed to significant maternal alcohol abuse prenatally. The sex ratio of the cohort was 0.38 (male: female) and ages ranged from 8 to 20 years, with a mean of 13 years. After application of the Revised IOM Diagnostic Criteria, 53% of the subjects were diagnosed as having FAS, 30% PFAS, 12% ARND, and 5% other diagnoses. Of note, although a family history of mental retardation or birth defects was rare, 43% of the children had one or more sibling who also carried a diagnosis of FAS. Eighty-nine percent of the mothers smoked cigarettes during gestation; other teratogenic exposures were rare. Almost none had undergone genetics evaluation in the past. Almost all of the subjects had resided in multiple foster placements since early childhood and had been followed regularly by pediatric specialists. Although 11% were born prematurely, 70% demonstrated prenatal growth deficiency, and 45% were microcephalic. Other than growth deficits and the cardinal facial features, the most common major and minor anomalies noted were: camptodactyly (55%), "hockey stick" or other altered palmar creases (51%), refractive errors (40%), strabismus (38%), dental crowding (43%), nail hypoplasia (38%), GU anomalies (22%), and congenital heart defects (18%), "Railroad track" ears were not observed in this population.
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PMID:Fetal alcohol spectrum disorders in Finland: clinical delineation of 77 older children and adolescents. 1635 36

We reviewed the records of all patients with recurrent seizures and severe head injury-induced traumatic intracranial hemorrhage (TIH) between 1989 and 2003 in three Israeli medical centers. We identified 52 cases (44 males, mean age=43+/-19 years, range=8-84; 8 females; mean age=74+/-12 years, range=48-85). Twenty-seven (52%) had additional known risk factors for TIH, e.g., older age, alcohol abuse, and anticoagulant use. All five children and adolescents had mental retardation. Approximately one-half of patients with seizures and TIH have additional risk factors for TIH. Non-mentally retarded children and adolescents with seizures are probably at low risk of developing TIH. Women less than 70 years old with seizures are much less prone to TIH than men. In young "otherwise healthy" patients with epilepsy, suboptimal treatment seems to be an important factor in the occurrence of TIH.
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PMID:Traumatic intracranial hemorrhage in patients with seizures: descriptive characteristics. 1647 59

Fragile X Syndrome is the most common heritable form of mental retardation caused by silencing of the FMR1 gene, which arises from intergenerational trinucleotide repeat expansion leading to full mutation. An intermediary carrier condition, known as the premutation, is characterized by expansion up to 200 repeats without concomitant gene silencing. This prevalent allelic variant was initially thought to be free of phenotypic effects. However, recent reports have identified a degenerative disease, Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) in older men as well as premature ovarian failure in women. Previously reports are inconsistent regarding the neuropsychiatric phenotype associated with premutation due to small sample sizes, ascertainment bias, lack of adequate control groups, administration of measures with poor psychometric properties, and the confounding effects of FXTAS. We addressed these problems by conducting a controlled study of male carriers (n = 40) of the premutation without manifest symptoms of FXTAS, comparing their responses on specific, reliable, and valid measures of neuropsychiatric functioning to those of individuals with shared family environment (n = 22) and non-carrier comparison males (n = 43). Multivariate analyses revealed that the premutation confers significant risk for working memory difficulties, an associated feature of Attention-Deficit Disorder. Furthermore, both the family controls and men with premutation exhibited higher rates of Alcohol Abuse as compared to non-carrier control men. These findings highlight the importance of recognizing the distinct phenotypic outcomes that characterize the Fragile X premutation and the subtle risk factors that can act as precursors to more significant psychiatric impairment.
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PMID:Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated Tremor/Ataxia syndrome: a controlled study. 1816 71

Alcohol abuse produces damaging effects on the CNS that leads to several types of disorders. When consumed during pregnancy, alcohol may cause craniofacial malformations, growth retardation and brain damage in offspring. These symptoms are grouped by the term fetal alcohol syndrome (FAS). FAS is the most common cause of non-genetic mental retardation in the western world. Substantial efforts to elucidate the molecular basis of these impairments are currently in progress. Whereas FAS is totally preventable by avoiding alcohol intake during pregnancy, efficient therapies to prevent or mitigate the effects of prenatal alcohol exposure are still not available but many pharmacological treatments have been developed to avoid alcohol intake and dependence in adults. The present article reviews the most relevant mechanisms of alcohol injury in developing brain and the strategies and patents that are currently available and in progress to prevent therapy for FAS.
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PMID:Novel molecular targets for the prevention of fetal alcohol syndrome. 1822 Dec 15

This study evaluated the social problem solving skills of adolescents with histories of prenatal alcohol exposure. Adolescents (28 alcohol-exposed, 15 controls) completed a standardized questionnaire of social problem solving, and caregivers completed a parent-report measure of executive functioning. Both questionnaires were mailed to families, and caregivers were asked to recruit a non-exposed control. Results suggest that alcohol-exposed adolescents have substantial impairments in their abilities to solve problems in their everyday life, even in the absence of mental retardation. Such impairments are likely to have a significant impact on social and academic functioning and reflect their need for critical services otherwise unavailable to them.
Am J Drug Alcohol Abuse 2008
PMID:Deficits in social problem solving in adolescents with prenatal exposure to alcohol. 1858 72


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