What is Down syndrome?
Jul 10, 2025
Source: Cainiu Health
Dr. Zhou Xiaofeng
Introduction
Under normal circumstances, Down syndrome is a common chromosomal abnormality disorder. It is recommended to seek timely medical attention and undergo symptomatic treatment under a doctor's guidance. Through measures such as genetic counseling, pre-pregnancy screening, and prenatal care, its incidence can be reduced to some extent. For children who have already been diagnosed, early intervention and treatment should be implemented to improve their quality of life.
Under normal circumstances, Down syndrome is a common chromosomal abnormality disorder. It is recommended to seek timely medical attention and undergo symptomatic treatment under the guidance of a physician. A detailed analysis is as follows:
Down syndrome is caused by abnormalities in the 21st pair of chromosomes in the patient's body during cellular meiosis, such as trisomy or translocation, leading to abnormal gene expression and subsequently triggering a series of severe physical and mental developmental disorders. Genetic factors mainly include family genetic history and gene mutations, while environmental factors may involve inappropriate medication during pregnancy, exposure to radioactive substances, etc. In terms of pathogenesis, abnormalities in the 21st pair of chromosomes primarily lead to disturbances in gene expression.
Children with this condition generally have low intellectual levels, with IQs mostly ranging between 20 and 50, showing significant cognitive and learning difficulties. As they age, the intellectual disability becomes increasingly apparent. Through genetic counseling, pre-pregnancy screening, prenatal care, and other measures, the incidence rate can be reduced to some extent. For children who have already been diagnosed, early intervention and treatment should be implemented to improve their quality of life.
