YOU ARE NOW CONNECTED TO THE TOXLINE (1981 FORWARD, NON-ROYALTY) FILE. ==DOWN'S SYNDROME== 12 AUTHOR Catalano RA TITLE Down syndrome. SOURCE Surv Ophthalmol 1990 Mar-Apr;34(5):385-98 ABSTRACT Down syndrome is the most common chromosome abnormality of man. The isolated occurrence of any one of the most of the protean systemic and ocular features of Down syndrome is not specific to the disorder. The associated occurrence of several of these features, however, has distinguished affected individuals as having a distinct entity for nearly 125 years. Recent advances in prenatal diagnosis have allowed the earlier detection, in utero, of chromosomal abnormalities. Although predisposing genetic and environmental influences remain for the most part unknown, advances in molecular biology are leading to a greater understanding of other common disorders that occur with an increased incidence in individuals with Down syndrome; these include Alzheimer's disease, acute childhood leukemia, congenital heart malformations, and immunologic abnormalities. Associated ocular disorders can significantly affect the quality of life of individuals with Down syndrome. As more children with Down syndrome live into adulthood, the ophthalmologist will play an increasing role in allowing them to lead productive and meaningful lives. 1 AUTHOR Goujard J AUTHOR Dumaret A AUTHOR De Vigan C AUTHOR Mounier V AUTHOR Ayme S TITLE Evaluation of the social acceptance of Down Syndrome from a French cohort of 600 affected babies. SOURCE Teratology 1995 Aug;52(2):121 ABSTRACT The improvement in technology of prenatal diagnosis for Down Syndromes had led to an increase access to this screening. But about 1000 women are delivering babies with Downs Syndrome each year in France. In public opinion inquiries performed on obstetricians and women, 75% of them are considering that the termination of pregnancy for this anomaly is defensible. Then, the problem of acceptability, both by health professional and parents, of these births that could be avoided, is rising. We decide to analyse the social acceptance of this handicap in taking the rate of forsaked babies as the indicator. The cohort is geographically based (Paris and Bouches-du-Rhone Registries). The analysis includes 422 Downs Syndrome babies from Paris area, born between 1981 and 1990, and 192 from the Bouches-du-Rhone area, born between 1984 and 1990. For each baby, a specific inquiry has been performed with multiple sources of information: delivery units, the public department of social help for childhood ("Aide Sociale a l'Enfance") and the private associations for adoption. For the studied period, the global rate of forsaking is 22.6% (n = 92) in Paris area and 12.4% (n = 23) in Bouches-du-Rhone area. 3 AUTHOR Stone DH AUTHOR Sinclair T AUTHOR Richardson P AUTHOR Miller H AUTHOR Womersley J TITLE Socio-economic correlates of Down's Syndrome. SOURCE Teratology 1989 Sep;40(3):297-8 ABSTRACT Despite decades of research, and the discovery of the associated chromosomal abnormality, the aetiology of (non-translocation) of Down's Syndrome remains unknown. In particular, no specific social factors operating independently of maternal age have been identified. Using a variant of the Jarman Score, we analysed data from the Glasgow Register of Congenital Anomalies to derive prevalence rates of Down's Syndrome in eight socio-economic clusters of post-code sectors of the Greater Glasgow Health Board. These clusters were internally homogeneous socio-economic groupings based housing tenure, unemployment and other indicators of social deprivation. An association between Down's Syndrome prevalence and high socio-economic status was found. The association persisted after standardisation for maternal age. This finding suggests that the relationship between high socio-economic status and Down's Syndrome prevalence may be aetiologically important. 17 AUTHOR Khoury MJ AUTHOR Erickson JD TITLE Can maternal risk factors influence the presence of major birth defects in infants with Down syndrome? SOURCE Am J Med Genet 1992 Aug 1;43(6):1016-22 ABSTRACT Although the manifestations of Down syndrome (DS) are well known, certain major birth defects such as duodenal atresia and endocardial cushion defects are present in some infants but not others, suggesting the possible role of other genetic or environmental factors interacting with the trisomy genotype. To explore the possible role of maternal factors in the presence of major defects among DS infants, we examined data from an epidemiologic study of DS conducted in metropolitan Atlanta. Of 219 DS infants born between 1968 and 1980, 50 had recorded cardiac defects, 9 had selected gastrointestinal atresias and 4 had oral clefts. We evaluated the association of these defects with several maternal factors including age, race, first trimester cigarette smoking, alcohol use, and fever. We found that different maternal factors were associated with several defects: (1) mother's race with cardiac defects (40% in blacks vs. 17% in whites, P less than 0.01), (2) mother's age with oral clefts (6% for less than 25 years, 1% for 25-34, and 0% for greater than 34, P less than 0.05), and (3) maternal first trimester fever with gastrointestinal defects (15% in infants with history of fever and 3% in infants without a history of fever, P less than 0.01). We also observed an inverse relationship between maternal alcohol use and the presence of ventricular septal defect. These findings suggest that maternal risk factors may influence the clinical manifestations of DS. In addition to searching for a genetic basis for the DS phenotype, we suggest that the role of environmental factors and maternal exposures be specifically explored in clarifying the genesis of various birth defects in Down syndrome. 19 AUTHOR Edmonds LD AUTHOR Lary JM TITLE Birth prevalence rates of Down syndrome by maternal age - United States, 1983-1990. SOURCE Teratology 1993 May;47(5):407-8 ABSTRACT We determined the birth prevalence rates of Down syndrome in the United States by analyzing data from 17 states with population-based birth defect surveillance systems. A total of 7,016 liveborn and stillborn infants with Down syndrome (ICD-9-CM code 758.0) was ascertained from 7,716,013 births during the period 1983-1990. The overall prevalence rate for Down syndrome in these states was 9.1 cases per 10,000 births. Maternal-age adjusted rates for blacks, whites, and Hispanics were 7.1, 9.1, and 11.7, respectively. These differences were highly consistent among states and within maternal age groups. For the total population, rates by maternal age were as follows: ages less than 20, 6.7; ages 20-24, 5.6; ages 25-29, 6.6; ages 30-34, 11.1; ages 35-39, 20.4; and ages greater than 39, 78.0. Down syndrome rates for infants whose mothers were younger than age 35 were relatively constant from 1983 through 1990, but rates for infants whose mothers were age 35 or older declined from 36.3 cases per 10,000 births in 1983 to 23.9 cases in 1990. The decline during this period may reflect an increase in the use of prenatal diagnostic procedures for women older than age 35. 24 AUTHOR Cuckle HS AUTHOR Alberman E AUTHOR Wald NJ AUTHOR Royston P AUTHOR Knight G TITLE Maternal smoking habits and Down's syndrome. SOURCE Prenat Diagn 1990 Sep;10(9):561-7 ABSTRACT Two series of pregnancies were studied to investigate the relationship between maternal smoking and the risk of fetal Down's syndrome. In the first series, ascertained in the 1960s, in which smoking habits were determined after the outcome of pregnancy was known, the proportion of smokers (47 per cent) among the 461 women whose pregnancies ended in the birth of an infant with Down's syndrome was similar to that in the 461 controls (46 per cent) who had pregnancies affected by other congenital disorders. In the second series, ascertained between 1973 and 1984, smoking habits were determined by measurement of cotinine in antenatal serum samples that were routinely collected and stored or, if a serum sample was not available, from information in the antenatal notes. In this series, the proportion of smokers (14 per cent) among the 91 women who had pregnancies associated with Down's syndrome was lower than that among 413 controls (19 per cent), though this was not statistically significant. Collectively, our results provide no evidence for an association between fetal Down's syndrome and smoking. Other published studies found a deficit of smokers among women who had pregnancies associated with Down's syndrome. This may be partly due to some studies not taking adequate account of maternal age (older women are more likely to have had a Down's syndrome pregnancy but are less likely to be smokers) and partly due to the greater tendency for positive findings to be published than negative ones.