Frequência de casos de pessoas portadoras de Síndrome de Down diagnosticados no estado do Maranhão entre os anos de 2010 a 2020

Abstract

Down Syndrome (DS) is caused by the trisomy of chromosome 21, a genetic alteration that determines the phenotypic characteristics of individuals with the condition. It is considered the most common genetic anomaly and is recognized as the leading cause of intellectual disability (ID), affecting approximately 25% of those with this condition. It is estimated that in Brazil, DS occurs in about 1 in every 700 births, totaling approximately 270,000 individuals with T21 in the country. Globally, the incidence is 1 in every 1,000 live births. However, there are few epidemiological studies in the state of Maranhão. In light of this, the present study aimed to characterize the cases of DS in the state of Maranhão, Brazil, between the years 2010 and 2020. To achieve this, the DATASUS database was used to identify cases of DS, using the following indicators: Q-90.0, T21, Q90.1, trisomy 21, mosaic, Q90.2 T21, translocation, and Q90.9, unspecified DS. Demographic variables were analyzed, including maternal age group, maternal education, marital status, location, place of birth, race/ethnicity and sex of the child, types of pregnancy, month of pregnancy onset, and type of genetic alteration. Between 2010 and 2020, 160 cases of DS were analyzed, 96.2% of which were of the unspecified DS type, and 63% were female. Regarding the characterization of the patients' mothers, most were in the age group between 35 and 40+ years (58/160; 36.25%), with three of these cases involving children with translocation. Additionally, 55.5% of the mothers were single (64/160), and 44% had a low level of education (71/160). The majority of cases involved individuals of mixed race (72.5%), with most cases originating from the northern macro-region of the state (59%), and 95.6% of the births occurred in hospitals. The results of this study highlight the need for public health actions focused on improving access to diagnosis and monitoring of DS in Maranhão, aiming to provide better care and support to patients and their families, thereby promoting a better quality of life for these individuals