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

This study uses data from Hawaii birth and death certificates and from the Department of Health Mental Retardation Registry for 1963-69 and 1971-77 to investigate whether there has been a decrease in the number of babies born with Down's syndrome since the legalization of abortion, and to what degree such a decrease may be attributed to legal abortion. High and low estimates of Down's syndrome prevalence and 3 types of measures used to estimate the change in its incidence lead to the conclusion that the number of cases and the incidence rates of Down's syndrome fell by between 24.5% and 48% between 1963-69 and 1971-77. A mathematical decomposition was made of the relative impact on the decline in number of cases observed between the 2 periods of 5 factors: Down's syndrome incidence rates by age, number and distribution of women of childbearing age, and pregnancy, abortion and fetal death rates by age. Four sets of data are derived, the most likely of which assumes that a significant number of induced abortions occurred before legalization and that the recorded cases of Down's syndrome represent almost complete coverage. Under these assumptions the number of cases of Down's syndrome fell by 24 between the 2 periods, and 43% of the total decline was accounted for by a rise in the rate of induced abortions, independent of all other factors. Declining pregnancy rates and decreasing age-specific incidence rates also contributed to the decline in number of cases.
 ...
PMID:The effect of induced abortion on the incidence of Down's syndrome in Hawaii. 644 72

A young girl 12 old, sent to us for obesity, and coxa-epiphysiolysis showed signs of mental retardation and bilateral thumb ankylosis. The fact that the mother was also affected by both of these signs, led to a more detailed genetic research. The latter revealed that not only the daughter, the mother, but also their own mother and may be, the sister, the grand-mother and the great-aunt of the patient had a retardation, a slight dysmorphia, a type A brachydactylia, signs of obesity and an identical ankylosis of both thumbs. This vertical inheritance, affecting apparently females only, but not associated with a high rate of miscarriage, has, it seems, never been reported. The characteristics of this family are being considered and discussed.
 ...
PMID:[Regular dominance of thumb ankylosis with mental retardation transmitted over 3 generations]. 663 21

Both cigarette smoking and alcohol consumption during pregnancy remain an important concern for the practicing obstetrician, who should provide current information on the potential detrimental effects of these habits. There appears to be a wide spectrum of fetal phenotypic response to the effects of alcohol. This phenotypic variability may be partially explained by the dose, timing, and pattern of gestational exposure, the metabolism of mother or fetus, or other environmental and genetic factors. At the most severe end of the spectrum are infants with the unique combination of anomalies termed the fetal alcohol syndrome (FAS). The abnormalities most typically associated with alcohol teratogenicity can be grouped into 4 categories: central nervous system (CNS) dysfunctions; growth deficiencies; a characteristic cluster of facial abnormalites, and variable major and minor malformations. To make a diagnosis of fullblown FAS, abnormalities in all 4 categories must be present. Along the continuum toward normal are infants with various combinations of FAS anomalies. One of the most common and serious defects associated with ethanol teratogenicity is mental retardation. Recent evidence supports the concept of a prenatal origin to the problem. At birth infants with FAS are deficient for both length and weight, usually at or below the 3rd percentile for both parameters. Growth and mental deficiency are seen in many conditions, but the rather striking facial appearance of children with FAS secures the diagnosis. The characteristic face in small children includes short palpebral fissures, short upturned nose, hypoplastic philtrum, hypoplastic maxilla, and thinned upper vermilion. A table lists the variety of malformations that may be found in other organ systems in patients with FAS. The likelihood of miscarriage increases directly with alcohol consumption. Risk of abortion is twice as high in women consuming 1 ounce of absolute alcohol (AA) as infrequently as twice a week. Alcohol has severe effects on a wide variety of animal species, and these effects are reviewed. FAS has been estimated to occur between 1 in 600 and 1 in 1000 live births in the US, France, and Sweden. Possible interference with placentation or implantation has been suggested by the observed increased frequency of spontaneous abortion of a chromosomally normal conceptus for women who smoke. On average, infants born to women who smoke during pregnancy are 200 gm lighter than babies born to comparable women who do not smoke. From a review of these studies, the relationship between smoking and reduced birth weight is independent of all other factors that influence birth weight. The finding of antepartum bleeding of unknown cause has consistently been found more often in smokers, compared with nonsmokers. In almost all studies, the incidence of preeclampsia has been found to be reduced in smokers. Sudden infant death syndrome has been found to be closely associated with both the frequency and level of maternal smoking during pregnancy.
 ...
PMID:Alcohol consumption and cigarette smoking: effect on pregnancy. 685 Dec 92

This report documents the outcome of two pregnancies is a woman with phenylketonuria (PKU) who was treated with a low phenylalanine diet before conception and during pregnancy. Her first pregnancy resulted in an abortion at 17 wk. During the second pregnancy the patient was unable to maintain the right diet consistently, and her blood phenylalanine levels in the first and second trimester were elevated. This pregnancy ended in the birth of a growth retarded microcephalic infant after an amenorrhea of 42 wk. The infant has maintained a normal growth velocity below the tenth percentile, and has not shown signs of mental retardation.
 ...
PMID:Maternal phenylketonuria: the outcome of pregnancy. 733 7

We describe two families in whom a pericentric inversion, inv(8)(p23q11), is segregating. No examples of unbalanced karyotypes were encountered. The families originated from neighbouring parishes in western Finland. In one family a mild form of mental retardation segregated. However, this phenotype did not cosegregate with the inversion karyotype. There was no evidence of a higher than average abortion rate in the inversion carriers. Carrier matings produced 19 children with a balanced inversion and 14 children with a normal karyotype, concordant with a 1:1 segregation ratio. Of 13 karyotyped men at risk, 10 were inversion carriers. However, this difference was not statistically different from the expected 1:1 ratio. In females, the inversion carrier to normal ratio was 10:11.
 ...
PMID:Familial pericentric inversion inv(8)(p23q11). 801 67

Pregnant women who have elevated levels of serum phenylalanine are more likely to have a spontaneous abortion or to give birth to an infant with congenital cardiac anomalies, symmetrical growth retardation, microcephaly and mental retardation than pregnant women with normal levels of this amino acid (1). Nine pregnancies in 7 women were managed in conjunction with the staff of the Children's Hospital, Sydney. In 6 patients, satisfactory serum levels of phenylalanine were attained and 6 offspring are all normal at follow-up, ranging from 15 years to 1 year. The 2 children of the poorly controlled mother were of low birth-weight and both had microcephaly at birth. The poor control of serum phenylalanine was due to poor compliance with the strict dietary regimen. It is concluded that dietary control of serum phenylalanine levels below 600 umol/l in pregnant women with PKU is possible and desirable and may improve perinatal and long-term outcome. This requires close co-operation between paediatrician, dietician, obstetrician and patient. Further data are required to confirm these findings in larger numbers and to provide long-term neurological follow-up.
 ...
PMID:Pregnancy complicated by maternal phenylketonuria. 821 17

The prognosis of mortality of four or more fetuses in the same pregnancy is put at 20% in the perinatal period, and another 20% within the first year of life. In addition, the higher number of fetuses faces a 50% risk of impairment, and quintuplets face a 90% risk of mental retardation. In 1988 in the New England Journal of Medicine, a discussion on reducing the number of several fetuses was published. In 1989 the reduction by means feticide was made public by the German Federal Chamber of Physicians eliciting ongoing controversy. From 1984 to 1992 there had been 67 cases of multiple fetuses, and in 43 cases selective feticide was performed in the Department of Prenatal Diagnosis of the Bonn University Gynecology Clinic. The first selective feticide technique in France, in 1982, consisted of vaginal aspiration out of the uterus. Later came transabdominal operations with aspiration of the amniotic fluid and puncture of the fetal heart, or injecting filtered air into the navel vein, or, later, potassium chloride into the heart of the fetus by means of a fetoscope, a technique later abandoned as too risky. In the case of a twin pregnancy resulting from in vitro fertilization, one was cornual pregnancy, and selective feticide saved the mother a major abdominal operation which probably would have resulted in the loss of both fetuses. The risks of selective feticide include infection and consequent miscarriage, and a 10% risk that the wrong fetus is killed and the sick fetus survives (only two such cases have been reported). However, the differentiation of the afflicted fetus from the healthy one is feasible by ultrasound in almost all cases. Recent statistics from England and Wales indicate a drop in abortions for fetal indication to 2000 in the past 10 years.
 ...
PMID:[Fetocide in multiple pregnancy]. 830 25

Two hundred and fifty-five mentally retarded women (cases) and their age-matched control women with no mental retardation (controls) requiring the assistance of a gynecological consultant were studied. Reasons for consultation, heights, weights, blood pressures, smoking histories, medications, gynecological findings and therapeutic measures recommended after examination were recorded. In comparison to the group of non-mentally retarded control women the group of mentally retarded women had no deliveries at all, the number of pregnancies was 118.3 times less (p < 0.001), abortion 20 times less (p < 0.01), gynecological laparotomies 4.3 times less (p < 0.05) and diagnostic curettages 25.7 times less often (p < 0.001), but the number of lynestrenol induced therapeutic amenorrhea (TA) 123 times more (p < 0.001), anticonvulsive drug therapy 91 times more (p < 0.001), polypharmacy 22 times more (p < 0.01) and virginal gynecological status 11.7 times more often (p < 0.001). Further, among the mentally retarded cases than non-mentally retarded controls, contraception was 58 times less (p < 0.05), not smoking 1.2 times (p < 0.001), the incidence of genital infections 2.9 times and tumors of all kind 4.6 times less common (p < 0.001). Of the present mentally retarded women 67.5% had at least once in their life received lynestrenol for TA. Autopsy confirmed arterial diseases occurred in two out of four mentally retarded patients aged 44 and 45 years, who were current lynestrenol users and died during the study period. Therapeutic amenorrhea exhibited a clinical picture of depressed pituitary gonadal axis.
 ...
PMID:Gynecological problems of mentally retarded women. A case-control study from southern Finland. 839 28

Children with phenylketonuria (PKU) detected in the neonatal period and who have received the appropriate diet develop normally whatever their sex. However, female PKU patients who, before becoming pregnant, do not take the precaution to follow a diet bringing phenylalanine to "normal levels" (2 to 5 mg in 100 ml of blood) give birth to children presenting with severe embryofoetal damage (e.g. intrauterine growth retardation, microcephaly, mental retardation, various malformations) directly due to their hyperphenylalaninaemia (20 mg or more in 100 ml of blood under a free diet). It is important to know these facts, since the benefits of systematic neonatal PKU detection may be cancelled by this late complication. The therapeutic approach in such cases is a follows: 1. Young women with known PKU must be informed of this risk and how it can be avoided by a preconception therapeutic diet. This means that they must permanently reside in the same geographical area, receive an adequate information at the end of puberty, use and effective contraception method and program their pregnancies preceded by a return to low phenylalanine diet. 2. Doctors must remember that because PKU detection has not become systematic until 1978, PKU girls of child-bearing are remain undetected, that they are not always mentally debilitated and can normally five birth to children with embryofoetal damage. In case of e.g. unexplained intrauterine growth retardation or microcephaly, it is necessary to perform a Guthrie test on the woman, since a prenatal diagnosis may lead to therapeutic abortion, and a postnatal diagnosis to a genetic counselling which will avoid recurrences.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Embryofetopathy of the newborn infant of a phenylketonuric mother. A diagnosis not to be missed]. 846 67

Pregnant women with hyperphenylalaninemia are at high risk of spontaneous abortion and of giving birth to infants with congenital malformations, microcephaly and mental defect. Among mothers whose phenylalaninemia is greater than 1200 mumol/L (20 mg/100 mL), 95% have at least one child with mental retardation. A low phenylalanine diet with a good control of phenylalaninemia, started before conception, reduces this risk, better results being obtained when plasma phenylalanine levels are maintained below 360 mumol/L (6 mg/100 mL) as compared with levels maintained between 360 to 600 mumol/L (6-10 mg/100 mL). Thus, systematic contraception and planned pregnancies must be recommended in all hyperphenylalanemic young women. This implies early information of phenylketonuric teenage girls and their parents. In addition, efforts must be made to join and inform all women having had hyperphenylalaninemia at birth, whether they received a dietary treatment or not. It is also important that general practitioners, pediatricians and obstetricians be aware of the high recurrence risk in hyperphenylalanemic women who gave birth to a microcephalic or malformed infant.
 ...
PMID:[Pregnancy and the child of a mother with phenylketonuria]. 876 23


<< Previous 1 2 3 4 5 6 7 8 Next >>