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

This review of the organic aspects of mental retardation considers this handicap among the other chronic neuropediatric disorders and is one of the numerous possible manifestations of a cerebral damage occurring in a developing nervous system. The relative frequency of the different etiologies is discussed in relation to the severity of the mental handicap. The prenatal causes of mental deficiency which are the most frequent are reviewed and a distinction is made between malformations and pseudomalformations. Particular mention of the fetal alcohol syndrome is made. The role of perinatal medicine in the epidemiology of mental retardation is discussed and the diagnostic approach of a particular child with mental retardation is presented with the personal experience of the author in the pediatric department, CHUV, Lausanne. The possible measures to prevent mental retardation are finally discussed.
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PMID:[Mental deficiency: organic aspects]. 48 89

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

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

Thirty years after recognition of the fetal alcohol syndrome, a study of 105 affected individuals who reached adulthood provides insight into the long-term outcome of this condition. The typical facial dysmorphism undergoes odd changes, often with a long face and a bulky nose and chin, in contrast to the appearance of affected infants. The growth failure becomes slightly less marked. The malformations, which occur in 3/4 of severe forms, increase the disability although function is sometimes better than expected. In contrast, the microcephaly becomes more pronounced. This explains the psychic disorders which are the main prognostic factor: mental retardation in the most severely affected patients or severe learning disabilities and, in every case, behavior disorders and marked instability. Similar disorders are often found in siblings with no apparent dysmorphism underlining the extent of the problem and the urgent need for prophylaxis. Some of the observations made in adults, confronted to embryologic data, lead to useful inferences with respect to prophylaxis.
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PMID:[Outcome of children of alcoholic mothers (study of 105 cases followed to adult age) and various prophylactic findings]. 161 36

A syndrome involving facial abnormalities (telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears), malformed extremities (camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity) and mental retardation is described in a girl at birth and at 11 years old. A comparison with Pashayan-Pruzansky syndrome, fetal alcohol syndrome, VATER association, Marden-Walker syndrome and Tel-Hashomer syndrome is discussed. We suggest this patient represents a new malformation syndrome or an extreme phenotypic variant of one of the above-mentioned syndromes.
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PMID:Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome? 163 41

Among children referred to our genetic clinics for mental or growth retardation we identified 8 of their mothers with the fetal alcohol syndrome. This was complete in 5 and partial in 3. All of their alcoholic mothers had died. Most of the patients were unwed mothers with mental retardation and no elementary education. One of them was also alcoholic and her third offspring had the syndrome. The etiology of this syndrome and possible preventive measures are discussed.
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PMID:[Progeny in women with fetal alcohol syndrome]. 172 14

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.
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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.
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PMID:The effects of prenatal alcohol on the central nervous system. 175 81

Dubowitz syndrome is a rare hereditary disorder whose main features are intra-uterine and post-natal growth retardation, characteristic facies, microcephaly, mental retardation and poor feeding. Because of the eczema which was present in half of the cases after 4 years of age, it cannot be mistaken for the more frequent fetal alcohol syndrome. We report 5 cases, among whom two sibs, confirming the recessive autosomal mode of inheritance and the necessity for genetic counseling.
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PMID:[Dubowitz syndrome. A diagnosis not to be missed]. 179 48

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)
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PMID:A revised conservative estimate of the incidence of FAS and its economic impact. 187 38


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