Down Syndrome In Brazil Research Articles

Personal and environmental factors and household assistance in Down syndrome: cross-sectional study.

According to a biopsychosocial framework, personal and environmental factors might be mediators or facilitators/barriers, respectively, to functioning. However, it is not known how these factors can impact independence in household chores in children/adolescents with Down syndrome (DS). This study explored whether and how personal/environmental factors are associated with the independence level in household chores of children/adolescents with DS in Brazil. Caregivers of twenty-eight children/adolescents with DS were interviewed using the CHORES and a standardized questionnaire about personal (child's age and sex) and environmental (socioeconomic level and maternal schooling) factors. Multiple linear regression analysis identified if/how these factors are associated with level of independence. For CHORES self-care and CHORES total, sex was a significant variable explaining 21.8% and 15.8%, respectively, of the variation in the outcomes. For the outcome CHORES family care none of the variables was significant. Female sex was associated with a lower need for assistance. We conclude that only the personal factor assessed related to female sex in children with DS was associated with the independence level in household chores. This finding highlights the importance of health care providers and families to encourage the independence in chores regardless of sex and promote opportunities for both boys and girls.

Quality of life in Down syndrome in Brazil: a cross-sectional study.

Down syndrome is the most commonly genetic cause of developmental delay and intellectual disability, affecting 1:700 live births. It is associated with heart disease and recurrent infections, among other complications that greatly impair the patient's quality of life. To evaluate the major factors associated with quality of life in a cohort of patients with Down syndrome. We assessed 1,187 patients with Down syndrome, older than 4 years old, with an adaptation of the Personal Outcomes Scale validated for Portuguese language, interviewing patients, parents, and caregivers. A bad quality of life was reported in 56.4% of the sample. The main factors associated with better quality of life were female sex, first medical visit before 4 months old, higher parental education, a professionally active mother, and prenatal care. The main factors associated with worse quality of life were family history of alcohol abuse and psychiatric disorders and comorbidity with autism and epilepsy. Clinical comorbidities such as autism and epilepsy carry a heavy burden among patients with Down syndrome, while factors related to family support, such as employment status and educational background of the parents, enhance quality of life. The factors associated with quality of life among patients with Down syndrome should be adequately evaluated in medical consultation and targeted in public health policies.

Down Syndrome in Brazil: Occurrence and Associated Factors.

Background: Down syndrome is the most frequent genetic cause of intellectual disability, with an estimated birth prevalence of 14 per 10,000 live births. In Brazil, statistical data on the occurrence of babies born with Down syndrome remain unclear. We aimed to estimate the occurrence of Down syndrome between 2012 and 2018, and to observe its association with maternal, gestational, paternal characteristics, and newborn vitality. Methods: A retrospective study was carried out using secondary data included in the Certificate of Live Birth in a state located in the southeastern region of Brazil. Data analysis was performed in the software Stata 14.1. Pearson’s chi-square test for bivariate analysis, and logistic regression for multivariate analysis were performed, with a 95% confidence interval (CI) and a significance of 5%. Results: We observed that 157 cases of Down syndrome were reported among 386,571 live births, representing an incidence of 4 in 10,000 live births. Down syndrome was associated with maternal age ≥ 35 years, paternal age ≥ 30 years, the performance of six or more prenatal consultations, prematurity, and low birth weight (p < 0.05). Conclusions: Women aged 35 and over were more likely to have children born with Down syndrome. In addition, there is an association of Down syndrome with premature birth, low birth weight, and the number of prenatal consultations (≥6).

Trends and predictions for survival and mortality in individuals with Down syndrome in Brazil: A 21-year analysis.

Regional heterogeneities and sociodemographic characteristics affect mortality and population survival in Brazil. However, for individuals with Down syndrome (DS) this information remains unknown. In this study, we analysed survival and mortality rates among DS individuals in the five Brazilian geographic regions. In addition, we investigated whether there is an association between mortality and sociodemographic factors across administrative regions. Data between 1996 and 2016, comprising 10028 records of deaths of individuals with DS, were collected from database records of the Department of Informatics of the Unified Health System. Data on race/ethnicity, sex, age and years of schooling were defined for the association analyses. Survival data were analysed according to the Kaplan-Meier method and Cox regression model. The number of deaths among people with DS has increased in recent years. Children are more susceptible to death, especially in the first years of life. Individuals living in the northern region, Indigenous women and people with no years of schooling have higher mortality. In the Southeast and South region, for White and Yellow, survival is related to a higher level of education. Ethnic factors and years of schooling influence risk for mortality across the administrative regions. These findings show that sociodemographic characteristics affect survival and are associated with the risk of mortality for people with DS. In addition, this suggests that differences in access to health services among Brazilian regions, especially in the first years of life, may affect the survival of individuals with DS.

The validity and reliability of the CAMDEX-DS for assessing dementia in adults with Down syndrome in Brazil.

Objective:Alzheimer’s disease occurs at a higher prevalence and an earlier age in individuals with Down syndrome (DS) than typically developing individuals. However, diagnosing dementia in individuals with intellectual disability remains a challenge due to pre-existing cognitive deficits. The aim of this study was to investigate the validity and reliability of the Brazilian version of the Cambridge Examination for Mental Disorders of Older People with Down’s syndrome and Others with Intellectual Disabilities (CAMDEX-DS) for individuals with DS.Methods:Two psychiatrists, working independently, evaluated 92 adults with DS ≥ 30 years of age. The concurrent validity of the CAMDEX-DS was analyzed in relation to the gold standard of established international criteria. In a subgroup of 20 subjects, the concurrent validity of the CAMDEX-DS was analyzed in relation to an independent objective assessment of cognitive decline over three years. We analyzed the inter-rater reliability of cognitive assessment.Results:The diagnostic accuracy of the CAMDEX-DS compared to the gold standard was 96.7%. CAMDEX-DS-based diagnosis was considered consistent with cognitive decline. The probability of a participant with dementia having cognitive decline was 83%. Inter-rater reliability for the participant assessment was good, with a kappa of > 0.8 for 93% of the CAMDEX-DS items.Conclusion:The CAMDEX-DS can be considered the first valid and reliable instrument for evaluating dementia in adults with DS in Brazil. Its use in such individuals could improve clinical practice and research.

Body mass index reference charts for the individuals with Down syndrome aged 2‐18 years

ObjectiveTo develop Brazilian growth charts for body mass index (BMI‐for‐age) for individuals with Down syndrome (DS). The secondary objective was to compare the BMI‐for‐age with the Centers for Disease Control and Prevention standards (CDC). MethodsA retrospective and cross‐sectional growth study of 706 youth with DS (56.7% males) was performed in 51 centers in São Paulo state, Brazil. Weight and height were used to calculate the BMI (kg/m2). The LMS method was applied to construct the growth charts. Z‐scores were based on the CDC 2000 growth standards. ResultsThe BMI‐for‐age reference charts showed excellent goodness of fit statistics for boys and girls with DS aged 2–18 years. At 2 years of age, the mean BMI Z‐scores of boys and girls with DS were lower compared to those of the CDC (Z‐score=−0.2). In contrast, children with DS aged 3‐18 years had higher mean Z‐scores for BMI‐for‐age when compared to those of the CDC (Z‐scores=+0.2 to +1.3). ConclusionsThe BMI of Brazilian youth with DS differs from those references established by CDC. These are the first Brazilian BMI‐for‐age charts for individuals with DS and will hopefully guide clinicians and parents in the evaluation and management of the nutritional status in children and adolescents with DS in Brazil.

Body mass index reference charts for individuals with Down syndrome aged 2–18 years

ObjectiveTo develop Brazilian growth charts for body mass index (BMI-for-age) for individuals with Down syndrome (DS). The secondary objective was to compare the BMI-for-age with the Centers for Disease Control and Prevention standards (CDC). MethodsA retrospective and cross-sectional growth study of 706 youth with DS (56.7% males) was performed in 51 centers in São Paulo state, Brazil. Weight and height were used to calculate the BMI (kg/m2). The LMS method was applied to construct the growth charts. Z-scores were based on the CDC 2000 growth standards. ResultsThe BMI-for-age reference charts showed excellent goodness of fit statistics for boys and girls with DS aged 2–18 years. At 2 years of age, the mean BMI Z-scores of boys and girls with DS were lower compared to those of the CDC (Z-score=−0.2). In contrast, children with DS aged 3–18 years had higher mean Z-scores for BMI-for-age when compared to those of the CDC (Z-scores=+0.2 to +1.3). ConclusionsThe BMI of Brazilian youth with DS differs from those references established by CDC. These are the first Brazilian BMI-for-age charts for individuals with DS and will hopefully guide clinicians and parents in the evaluation and management of the nutritional status in children and adolescents with DS in Brazil.

Risk Factors for Development of Children with Down Syndrome in Brazil

The study of risk factors that affect the development of children with Down syndrome (DS) has been the main subject of several studies. In the Brazilian context, the development of instruments to identify such risks is still a challenge. The current study had the objective of examining the characteristics of a diagnostic organizer instrument which detects risk factors for development. The study was conducted in a clinic that offers services to children with DS in a Public Hospital in Curitiba, Brazil—and 15 parents of children from 0 - 8 years with DS that use the ambulatory service were interviewed, while the children’s medical records were also consulted. With the use of the Organization Diagnostic for Early Intervention (ODAP (GAT, 2008)), current and past conditions of child development as well as risk factors were evaluated. The research provided an organization of diagnostic, identifying cumulative risks factors for child development with emphasis on biological and environmental factors, and revealed vulnerabilities. The study provided a comprehensive understanding about the influence of the risk factors to development, as well as informing the development of strategies for intervention to enhance protective factors and promote positive child development and higher quality in family and social relationships.

Habits of life of people with Down Syndrome in Brazil

Habits of life of people with Down Syndrome in Brazil

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

The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS). Seventy-two DS mothers and 194 mothers who had no children with DS were evaluated. The investigation of the MTHFR C677T, MTR A2756G and RFC1 A80G polymorphisms was performed by polymerase chain reaction and enzyme digestion and the MTHFR A1298C polymorphism by allele-specific polymerase chain reaction. Hcy quantification was carried out by liquid chromatography-tandem mass spectrometry. The median number of polymorphic alleles for the four loci tested was greater in DS mothers compared to the control group, and the presence of three or more polymorphic alleles increased the risk for having a child with DS 1.74 times. Elevated maternal risk for DS was also observed when plasma Hcy concentration was higher than 4.99 micromol/L. In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS.

Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil

Associations between specific alleles of genes encoding enzymes in the methionine/homocysteine pathway and plasma homocysteine levels have been examined in different populations. In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. Homocysteine levels were higher among DS mothers compared to control groups (10.437 vs. 8.600 respectively, P = 0.002). Only the 677T allele was associated with altered levels of tHcy in the case group (F((2,153)) = 5.300; P = 0.006), primarily when homozygous. In the control group, the association of the TT genotype with higher levels of tHcy showed borderline significance (F((2,157)) = 2.974; P = 0.054). All genotype distributions were similar in the two groups (P > 0.05), but the frequency of the 677T allele in the case group was significantly higher (chi(2) = 3.862; DF = 1; P = 0.049; OR = 1.437 (1.001-2.062)). Although the 677T allele is associated with increased homocysteine levels, its presence has only a modest impact as an independent risk factor for DS. All the other polymorphisms did not show an association with risk for the syndrome, when evaluated separately (P > 0.05). However, when the presence of 677T, 1298C, 2756G, 66G, and 844ins68 alleles were evaluated together, the mothers of children with DS tend to have a higher number of uncommon alleles than the mothers with no previous affected child.

Little Evidence of the Protective Role of MTHFR Genetic Polymorfism in Acute Leukaemia and Down Syndrome in Brazil.

Immunomolecular and genetic markers are great tools to understand the pathway of leukemogenesis. Because of acute leukemias (ALs) commonly arise as result of DNA damage and/or DNA translocations, the polymorphism of 5,10-methylenetetrahydrofolate reductase gene (MTHFR) have been associated to reduced enzyme activity and altered distribution of cellular folate metabolites. We have determined the prevalence of MTHFR mutations C677T and A1298C in 227 children with AL from different regions of Brazil and 279 region-matched subjects as the control group. PCR-RFLP method was applied using HinfI and MboII restriction digestion to determine the MTHFR 677 and 1298 respectively. Odds ratio (OR) and 95% confidence intervals (95%CI) were used as statistics standard methods. There were 202 acute lymphoblastic leukemias (ALL) and 65 acute myeloid leukemias (AML) from three different regions of Brazil. The frequencies of the 677CC, 677CT and 677TT genotype were 57%, 33%, 10% in the ALL cases; and 51%, 40%, 9% in the controls, respectively. Whereas the frequencies of MTHFR 1298AA, 1298AC and 1298CC were 52%, 40%, 8% in the ALL cases and 61%, 32%, 7% in the controls, respectively. Also, we analyzed separately a group of Down syndrome (DS) cases that include (i) DS with AL and, (ii) DS without AL. The frequencies of the 677CC, 677CT and 677TT genotype were 2,16%, 2,37%, 0% in the DS with AL cases, and 4,31%, 3,02%, 0,22% in the DS without AL, respectively. Whereas the frequencies of MTHFR 1298AA, 1298AC, 1298CC were 2,94%, 1,05%, 0,84% in the DS with AL and 4,83%, 2,10%, 0,63% in the DS without AL, respectively. There were no differences of MTHFR C677T frequencies in both groups in overall analysis.However, the frequency of MTHFR 677 and MTHFR 1298 genotypes differ between cases and controls in different regions of Brazil (p<0.04). The overall analysis indicates that MTHFR C677T and A1298C may confer a protective effect against childhood acute leukemia only in distinct group of cases.RegionODIC (95%)pSouth0.410.045–3.590.69Southeast0.780.265–2.330.84Northeast1,020.385–2.650.69