What is a Down syndrome baby?

Down syndrome, also known as Down's syndrome, is a condition caused by the presence of an extra chromosome 21. It is generally due to factors such as heredity, advanced maternal age, insufficient folic acid supplementation, repeated miscarriages, or exposure to teratogenic substances. Improvement can be achieved through various approaches including general treatment, rehabilitation training, medication, psychological therapy, and surgical intervention. The details are analyzed below:

I. Causes

1. Heredity
If there is a family history of Down syndrome among close relatives, the likelihood of parents having another child with Down syndrome is higher than in the general population.

2. Advanced Maternal Age
In many cases of Down syndrome, during the formation of the mother's egg cells, the 21st chromosome fails to separate properly, resulting in an embryo with an additional chromosome 21. This mainly occurs because older pregnant women experience gradual decline in ovarian function, increasing the risk of chromosomal nondisjunction during cell division of reproductive cells or fertilized eggs.

3. Insufficient Folic Acid Supplementation
The condition may also result from inadequate or improper folic acid intake during pregnancy, which could lead to abnormal increases in plasma folic acid concentration and potentially contribute to chromosomal abnormalities.

4. Repeated Miscarriages
Repeated miscarriages in women may lead to decreased ovarian function and reduced oocyte quality, thereby increasing the risk of fetal Down syndrome.

5. Exposure to Teratogenic Substances
Teratogens in the environment—such as radiation, benzene, pesticides—and certain medications like sulfonamides—can cause chromosomal abnormalities. Women exposed to abdominal radiation before or during early pregnancy, repeated exposure to other teratogens, or prior viral infections have a significantly increased risk of having children with Down syndrome.

II. Treatment Approaches

1. General Care
Individuals with Down syndrome are prone to infections, so infection prevention is important. They should stay warm and avoid cold exposure. Adequate nutrition is essential: include protein-rich foods such as eggs and milk, and consume fresh vegetables and fruits regularly. Spicy and irritating foods should be avoided.

2. Rehabilitation Training
Down syndrome is a chromosomal disorder that may lead to delayed growth and intellectual disability. For patients with mild symptoms, rehabilitation training—including speech therapy—can be beneficial and help improve developmental outcomes.

3. Medication
Under medical guidance, patients may take medications such as bromocriptine mesylate tablets or propranolol hydrochloride tablets to regulate hormone levels and alleviate symptoms. Other drugs, such as human chorionic gonadotropin for injection or deferoxamine mesylate for injection, may also be appropriately used to support treatment.

4. Psychological Therapy
Individuals with Down syndrome may experience psychological issues such as anxiety or depression. Seeking help from a psychologist and undergoing cognitive behavioral therapy can provide effective emotional and mental support.

5. Surgical Treatment
For severe cases unresponsive to conservative treatments, surgical options may be considered, such as selective posterior rhizotomy or thoracoscopic surgery, to improve symptoms.

Although Down syndrome is an irreversible genetic disorder, early diagnosis and timely intervention can significantly enhance a child’s ability to develop life skills and independence. It is recommended that pregnant women undergo regular prenatal screening to facilitate early detection and prompt management.