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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Microcephaly and mental retardation have been principal features of the fetal alcohol syndrome. This article describes the neuropathologic findings in four human neonates who were exposed to large quantities of ethanol at frequent intervals during gestation. The findings suggest that intrauterine exposure to ethanol can result in structural abnormalities of the brain. All four brains displayed similar malformations stemming from errors in migration of neuronal and glial elements. Hydrocephalus was one consequence of the malformations in two of the infants. Futhermore, the brain alterations may be the only distinct abnormality produced by in utero ethanol exposure. Only two of the four subjects were diagnosed as having the fetal alcohol syndrome from external criteria.
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PMID:Brain malformations related to prenatal exposure to ethanol. 61 80

68 cases of alcohol embryopathy are reported. The main symptoms are intrauterine and postnatal growth retardation (91%), microcephaly (87 per cent), psychomotor and mental retardation (84 per cent) and a typical craniofacial dysmorphism. Other malformations are frequently found such as cardiac defects (31 per cent), anomalies of joints (23 per cent) and genitalia (50 per cent). There is a marked variation in the intensity of the malformations. Taking into account the extent of the craniofacial dysmorphism and the cerebral damage, a classification into three types (I-111) of alcohol embryopathy is proposed. That ethanol has a teratogenic effect seems to be confirmed. The mother's clinical history suggests that the quantity of alcohol consumed has no marked influence on birth weight, length of gestation and severity of the symptoms. Possibly a defective ethanol metabolism in the severely affected mothers may account for the dysplasias.
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PMID:[Clinical aspects of pathogenesis of alcohol embryopathy (author's transl)]. 82 93

Alcohol is the most frequent and most important teratogenic agent causing mental and physical retardation in childhood. The alcohol fetal syndrome is characterized by pre- and postnatal growth retardation, hypotonia, hyperactivity, microcephalus, mental retardation and typical craniofacial malformations. The latter includes short palpebral fissures, a poorly developed philtrum, thin upper lip vermillion, short mandibles, a flattened midface structure and dysplastic ears. Ophthalmological signs occur in 90% and include epicanthus, ptosis, myopia, optic nerve hypoplasia and tortuous retinal vessels. Microphthalmus, coloboma and Peters' anomaly have also been described. Five children with alcohol embryopathy are presented. The histopathological findings of the enucleated eye of a 6th child with alcohol embryopathy which was sent to us for examination and which revealed an anterior staphyloma with Peters' anomaly is also described. Ophthalmologists should be aware of alcohol in pregnancy as a preventable cause of eye malformation.
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PMID:[Eye manifestations of fetal alcohol syndrome]. 158 39

Fetal alcohol syndrome is the leading known cause of mental retardation. The syndrome, defined as growth retardation, midface hypoplasia, and neurologic dysfunction, represents only part of the spectrum of fetal alcohol effects. The biochemical mechanism of teratogenesis is unknown. In adults, metabolites of ethanol, FAEE, are known to accumulate in major organs. The formation of FAEE is catalyzed by a family of enzymes, FAEE synthases. Our hypothesis is that accumulation of FAEE in the embryo results in fetal alcohol syndrome. We have developed assays for FAEE and FAEE synthase activity using mg of tissue. Using these assays, we have shown the following: Human placenta, mouse placenta, heart, and liver are active in catalyzing the formation of FAEE. One h after maternal ethanol administration on gestational d 14, mouse placenta and fetuses accumulated significant quantities of FAEE. The fatty acid incorporated into FAEE was tissue dependent. Tissues from pregnant animals given ethanol on gestational d 7 showed persistence of FAEE on gestational d 14. We conclude that: 1) human and mouse placentas have significant FAEE synthase activity, 2) mouse heart, liver, placenta, and fetal tissues accumulate significant amounts of FAEE after maternal ethanol exposure, 3) there is tissue specificity for the fatty acid incorporated into FAEE, and 4) FAEE may persist for 7 d in placentas. These results provide a basis for further research into the role of FAEE in the development of fetal alcohol syndrome.
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PMID:Fetal alcohol syndrome and fatty acid ethyl esters. 160 26

Current research indicates the importance of synaptic number and structure in plastic processes such as development, learning and memory, and aging. As such, the examination of these neural features has become an important factor in research on human conditions such as mental retardation, aging and Alzheimer's disease. Synaptic research in human tissue typically involves delayed post-mortem fixation, therefore the current research was designed to examine the effect of post-mortem delay on synaptic number and structure in tissue stained with either routine osmium lead citrate/uranyl acetate (osmium) or ethanol phosphotungstic acid (EPTA). Results indicate that synaptic density shows either a gradual decline (EPTA) or an initial marked drop followed by a plateau (osmium) up to 10-15 h post-mortem depending on the stain used. The number of synaptic vesicles per synapse also undergoes a gradual decline. Measures of synaptic structure were more stable, with the primary change being an initial increase in the cross-sectional length of the synapse. Maximal height of the pre- and postsynaptic dense elements were not affected by post-mortem delay. The EPTA stain gave the best estimates of synaptic parameters with short post-mortem delays. These results indicate that different synaptic measures (and stains) show different responses to post-mortem fixation delay, and that experimental or statistical methods must be used to control for post-mortem effects.
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PMID:Quantifying synaptic number and structure: effects of stain and post-mortem delay. 169 64

A revised estimate of the national economic impact of fetal alcohol syndrome (FAS)-related abnormalities was conducted. The present evaluation included "corrections" for background rates of low birth weight, and costs normally incurred for housing and food regardless of whether an individual requires institutionalization or not. Additional anomalies were included along with hospital costs provided for in diagnostic-related groups. The current estimate for annual costs related to FAS is $249.7 million, which is about $80 million less than our previous estimate. This estimate is lower due to a slightly lower number of cases with low birth weight, a correction for costs that would otherwise have occurred, and exclusion of costs (about $75 million) for annual semi-independent support for individuals with IQs in the 70-85 range. Nonetheless, mental retardation accounts for almost 60% of the estimated total cost. A quarter of a billion dollars per year remains a high economic incremental cost by any reasonable standard and represents a benchmark against which costs of potential prevention strategies may be judged.
Recent Dev Alcohol 1991
PMID:A revised estimate of the economic impact of fetal alcohol syndrome. 175 79

Prenatal alcohol exposure has a profound effect on the developing brain. In fetal alcohol syndrome (FAS), mental retardation and microcephaly are commonly observed. A partial syndrome, fetal alcohol effects (FAE) can result in neurobehavioral sequelae, which may present at birth or appear later in development. This chapter discusses the clinical evidence supporting the concept of FAE, the range of cognitive disturbances seen in FAS and FAE children, and studies on long-term outcome. We review studies that suggest that even in the absence of the stigmata of FAS, neonatal signs of central nervous system dysfunction may predict later developmental deviation. However, the clinical research on the cognitive and behavioral disorders in the FAE population is limited. Examination of electroencephalograms, evoked potentials, and sleep pattern provide additional evidence that the functional integrity of the brain has been altered. An abbreviated review of behavioral animal studies provides additional support for the clinical investigations presented.
Recent Dev Alcohol 1991
PMID:The effects of prenatal alcohol on the central nervous system. 175 81

We have conducted a new analysis of the incidence of fetal alcohol syndrome (FAS) and its economic impact based on prospectively gathered data of consecutive pregnancies. This more conservative analysis reflects our concern over possible inclusion of "false positives" in our previous estimate and now puts the overall rate in the western world at 0.33 cases per 1000. The estimate among whites is 0.29 per 1000 compared with 0.48 per 1000 for blacks. We did not include estimates for native Americans owing to the absence of prospectively gathered data on FAS for this group. Retrospective studies suggest larger disparities. Both prospective and retrospective studies may be influenced by examiner bias especially for minorities since minorities are often evaluated against standards derived from whites. Based on our estimates and the number of black and white children born each year, we estimate that about 1200 children are born with FAS each year in the United States. This is a probable lower limit based on considerations of ascertainment and absence of relevant information for other minorities such as native Americans. In calculating economic costs, we have now adjusted our estimates to take into account costs that would be incurred whether cases were FAS or not, and also have now included estimated costs for anomalies in FAS cases not considered in previous estimates. Based on these considerations, we now estimate the incremented annual cost of treating this disorder at $74.6 million. About three-quarters of this economic burden is associated with care of FAS cases with mental retardation.(ABSTRACT TRUNCATED AT 250 WORDS)
Alcohol Clin Exp Res 1991 Jun
PMID:A revised conservative estimate of the incidence of FAS and its economic impact. 187 38

Fetal alcohol syndrome (FAS) is a major known cause of fetal malformations and mental retardation. Prevention/intervention of FAS can only be achieved with identification of the mechanisms by which alcohol induces birth defects. The purpose of this paper is to discuss the data on possible mechanisms of FAS, and to give a number of suggestions for future research areas.
Alcohol Clin Exp Res 1990 Dec
PMID:Perspectives on the pathophysiology of fetal alcohol syndrome. 208 15

Fetal alcohol syndrome (FAS) is noted for poor growth, developmental delays, and mental retardation. In animals, prenatal alcohol exposure alters anatomical, physiological, and neurochemical maturation and produces behavioral changes similar to those in children. Since thyroid hormones are critical trophic factors for normal somatic and neural maturation, and since fetal thyroid hormones are profoundly affected by acute maternal ethanol administration, we hypothesized that postnatal effects of prenatal alcohol exposure may be related to abnormal thyroid hormone development. We report here that young rats exposed to alcohol in utero have significantly lower serum total thyroxine (T4) concentrations than normal and pair-fed control rats. The results suggest prenatal ethanol exposure may compromise thyroid development in ways not attributable to undernutrition or developmental delays alone. Lowered total T4 levels may be a teratogenic outcome of prenatal alcohol exposure, which could contribute to impaired growth, altered neural organization, and behavioral dysfunction.
Alcohol Clin Exp Res 1990 Jun
PMID:Lower serum thyroxine levels in rats following prenatal exposure to ethanol. 237 31


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