A genetic disorder caused by abnormal cell division resulting in the presence of an extra copy of chromosome 21. It is characterized by physical and developmental delays, intellectual disability, and distinct facial features.
A better understanding of the condition and early intervention can significantly improve children’s quality of life.
Symptoms of Down Syndrome
Common physical signs of Down syndrome include:
• Low muscle tone
• A flat facial profile and small head
• An upward slant to the eyes
• A short neck
• Small ears
• A single deep crease across the center of the palm
• Excessive flexibility
• Poor coordination and balance
Common cognitive and developmental signs of Down syndrome include:
• Delayed cognitive development
• Delayed speech and language skills
• Learning disabilities
• Poor short-term memory
• Poor judgment and problem-solving skills
• Difficulty with abstract concepts
Causes of Downs Syndrome
Downs syndrome is caused by an extra copy of chromosome 21 (trisomy 21) in the cells of the body. This extra chromosome can be inherited from a parent, or it can happen as a random event during cell division in either the egg or sperm cell. Other causes of Downs Syndrome include advanced maternal age, or exposure to certain environmental factors such as alcohol or radiation.
Risk factors of Downs syndrome
1. Advancing maternal age: The risk of having a baby with Down syndrome increases with the age of the mother, especially after 35.
2. Family History: A parent who has a child with Down syndrome has an increased chance of having a second child with the disorder.
3. Ethnicity: Down syndrome is more common in some ethnic groups, such as Hispanic and African-American populations.
4. Chromosomal abnormality: People with certain chromosome abnormalities, such as translocations, may have an increased risk of having a child with Down syndrome.
5. Parental health conditions: Down syndrome has been linked to certain medical conditions in the parents, such as diabetes and obesity.
Diagnosis of Downs Syndrome
Downs syndrome is a chromosomal condition that is typically associated with a delay in physical and intellectual development. It is usually identified through routine prenatal screening tests. Diagnosis is typically based on the presence of certain physical features, such as an upward slant to the eyes, and a test called a chromosomal karyotype, which looks at the number and arrangement of chromosomes in a sample of cells.
Treatment of Downs Syndrome
Treatment for Down syndrome varies depending on the individual’s needs. Generally, treatment focuses on helping the person with Down syndrome reach their potential in all areas of life, including physical, intellectual, social, and emotional development.
It Includes:
- Early intervention services, such as physical, occupational, speech, and language therapy
- Special education services and support
- Speech and language therapy
- Behavioral interventions
- Medical care, such as heart defects, hearing and vision loss, thyroid issues, and gastrointestinal problems
- Recreational activities and social skills training
- Vocational training
- Nutrition and dietary modifications
- Genetic counseling
Prevention of Down Syndrome
- Take Folic Acid: Women should take at least 400 micrograms of folic acid per day before and during pregnancy to reduce the risk of having a baby with Down syndrome.
- Monitor maternal age: Women who are 35 and older are more likely to have a baby with Down syndrome.
- Screenings and tests: Several prenatal screening tests are available to determine whether a fetus is likely to have Down syndrome.
- Genetic counseling: Couples who have a family history of Down syndrome or are at increased risk for having a baby with Down syndrome can benefit from genetic counseling.
- Healthy lifestyle: Eating healthy foods, getting regular exercise, and avoiding alcohol and smoking can help reduce the risk of having a baby with Down syndrome.
