Maternal age and Down syndrome in Southeastern Brazil

Abstract

The proportion of maternal-age-independent patients estimated among 200 Brazilian Down syndrome children (59.6%) was significantly larger than that of maternal-age-dependent cases (40.4%). The latter proportion is the smallest observed in pertinent literature and due basically to the low mean maternal age of the population analyzed. Based on the remarkable correlation (r = 0.95) between the proportion of maternal-age-dependent patients and the mean maternal age of the general population, a simple predictive equation to estimate the proportion of maternal-age-dependent Down syndrome patients based on the mean maternal age of the general population is suggested in situations where reliable data on the incidence of this syndrome according to maternal age is not available

Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil

“…A Brazilian study conducted in the southeastern region of the country showed that the maternal age of women with DS children was significantly higher than that of women without DS children (Beiguelman et al, 1996), and our results confirm this finding.…”

A80G polymorphism of reduced folate carrier 1 (RFC1) and C776G polymorphism of transcobalamin 2 (TC2) genes in Down's syndrome etiology

“…3,4 In fact, it has been shown that the frequency of chromosomal aberrations becomes greater with advancing maternal age, 3,24,25 especially with regard to trisomy of chromosomes 13, 18 and 21 in women who give birth when over 35 years old. 26 According to data from the Latin American Collaborative Study of Congenital Malformations (ECLAMC), 40% of live births with DS were born from mothers who were between 40 and 44 years old, although women of this age account for only 2% of all births.…”

“…2 The risk factors for meiotic nondisjunction are not very clear, except for advanced maternal age. 3,4 Folic acid has an important role in the process of genetic material distribution during cell division, because of its importance to cellular methylation reactions. 5 The folate metabolism is responsible for synthesizing S-adenosylmethionine (SAM), the main donor of methyl groups for cellular methylation reactions.…”

Conhecimento Da Habilidade Motora E Fatores Clinicos De Crianças Com Sindrome De Down E a Sobrecarga De Seus Cuidadores

“…Com relação a maior prevalência de conhecimento da condição sindrômica da criança após o nascimento, o estudo de Suneilaitis (11) observou que ao saber sobre o diagnóstico crônico e com tantas limitações como a SD, torna-se difícil a elaboração da perda do filho " imaginário" pelas mães. Associa-se a isto a transmissão de orientações do profissional, que deverá ser atualizado, a fim de fornecer informações para aquela etapa da vida da criança, sempre acentuando as possibilidades de desenvolvimento em todas as áreas: afetiva, social e cognitiva quando estas forem estimuladas adequada e precocemente.…”