Trisomy 21 syndrome

DEFINITION

Down syndrome is a genetic disorder caused by abnormal cell division resulting in extra genetic material from chromosome 21. It is the most common genetic chromosomal disorder leading to intellectual disability, developmental delays, and various health problems.

SYMPTOMS

• Flattened facial features
• Small head
• Short neck
• Protruding tongue
• Upward slanting eyes
• Unusually shaped or small ears
• Poor muscle tone
• Broad, short hands with a single crease in the palm
• Relatively short fingers and small hands and feet
• Excessive flexibility
• Tiny white spots on the colored part of the eye called Brushfield spots

CAUSES

Three genetic variations can cause Down syndrome: 1. Trisomy 21 2. Mosaic Down syndrome 3. Translocation Down syndrome

RISK FACTORS

• Advancing maternal age
• Having had one child with Down syndrome
• Being carriers of the genetic translocation for Down syndrome

COMPLICATIONS

Complications may include heart defects, leukemia, infectious diseases, dementia, sleep apnea, obesity, and other health conditions.

TESTS AND DIAGNOSIS

Screening tests during pregnancy include the first trimester combined test, integrated screening test, and cell-free fetal DNA analysis. Diagnostic tests include amniocentesis, chorionic villus sampling (CVS), and cordocentesis.

TREATMENTS AND DRUGS

Early intervention programs and team care involving specialists are essential for children with Down syndrome.

LIFESTYLE AND HOME REMEDIES

Consulting a genetic counselor before becoming pregnant if at high risk can be helpful.

COPING AND SUPPORT

Building a team of trusted professionals, seeking support groups, and expecting a bright future can help in coping with and supporting individuals with Down syndrome.

QUESTIONS

1. What is Down syndrome?

Down syndrome is a genetic disorder caused by abnormal cell division resulting in extra genetic material from chromosome 21.

2. What are the symptoms of Down syndrome?

Symptoms include flattened facial features, small head, short neck, protruding tongue, upward slanting eyes, etc.

3. What causes Down syndrome?

Down syndrome can result from trisomy 21, mosaic Down syndrome, or translocation Down syndrome.

4. Is Down syndrome inherited?

Most cases of Down syndrome are not inherited; they result from a mistake in cell division during development.

5. What are the risk factors for having a baby with Down syndrome?

Advancing maternal age and having had one child with Down syndrome are significant risk factors.

6. What complications can arise from Down syndrome?

Complications may include heart defects, leukemia, infectious diseases, dementia, sleep apnea, obesity, among others.

7. How is Down syndrome diagnosed during pregnancy?

Screening tests like the first trimester combined test and diagnostic tests like amniocentesis can help identify if the baby has Down syndrome.

8. How can early intervention help individuals with Down syndrome?

Early intervention programs offer stimulation at an early age to help develop motor skills, language skills, social skills, and self-help skills.

9. Are there lifestyle changes or home remedies for managing Down syndrome?

Consulting a genetic counselor before pregnancy if at high risk can be beneficial.

10. How can families cope with having a child with Down syndrome?

Building a supportive team of professionals and seeking out support groups can aid families in coping with and supporting individuals with Down syndrome.