What is a child with Down syndrome?
Down syndrome is a congenital disease, also known as trisomy 21, which is usually caused by an abnormal number of chromosomes in the fetus. Normally, human cells have 23 pairs of chromosomes, while children with Down syndrome have three pairs of chromosome 21, which is where the name comes from. Down\’s syndrome is the result of abnormal chromosome segregation in germ cells and abnormalities in early embryonic development. It is present in the cellular genetic material of the embryo. It is usually caused by problems with the mother\’s egg or the father\’s sperm during fertilization.
Incidence and symptoms of children with Down syndrome
Down syndrome is one of the common congenital malformations, with an incidence rate of approximately 1 in 8,000 newborns. Children with Down syndrome have certain degree of abnormalities in their physical characteristics and intelligence. Symptoms include mental retardation, growth retardation, abnormal facial features, heart problems, muscle relaxation, gastrointestinal problems, etc. Because chromosome 21 contains many key genes, it causes problems such as intellectual development delay in children with Down syndrome.
Inheritance patterns of children with Down syndrome
Down syndrome is a common autosomal dominant genetic disease, but most children with Down syndrome do not inherit it from their parents. The risk of a child with Down syndrome is related to the mother\’s age. As the mother\’s age increases, the risk increases. Unlike normal situations where a fertilized egg merges with a pair of chromosomes, there is a problem during the chromosome separation process in the fertilized egg, resulting in an abnormal number of chromosomes in children with Down syndrome.
Prevention and treatment of children with Down syndrome
Down\’s syndrome is an irreversible disease. The main preventive measures are to understand the mother\’s pre-pregnancy health status in advance and control the mother\’s age and health status during pregnancy. At the same time, every pregnant woman should receive prenatal chronic disease screening to determine the risk. The treatment of children with Down syndrome is mainly supportive care, aiming to correct the physical defects and intellectual problems of children with Down syndrome. Treatment options include surgery, physiological therapy, behavioral and educational support, etc., but these treatments can only relieve the patient\’s symptoms and cannot cure children with Down syndrome.
Conclusion
Because the occurrence of Down syndrome is caused by fetal chromosomal abnormalities, it cannot be prevented and treated during delivery. Genetic risk and prenatal screening for children with Down syndrome remain preventive measures we can implement. Although children with Down syndrome cannot be cured, timely supportive treatment and educational support are crucial to their healthy development. We should do our best to learn more about children with Down syndrome so that we can make the best decisions when the need arises.
