DOWN SYNDROME
*Down syndrome is a genetic disorder caused by an extra copy of chromosome 21.
*Causes and Risk Factors:*
1. Genetic mutation: Extra copy of chromosome 21.
2. Advanced maternal age (35+ years).
3. Family history.
4. Genetic carriers.
*Symptoms:*
1. Intellectual disability.
2. Delayed speech and language development.
3. Physical characteristics:
- Flat face.
- Short neck.
- Protruding tongue.
- Small ears.
- Short stature.
4. Health issues:
- Congenital heart defects.
- Vision and hearing problems.
- Respiratory issues.
- Increased risk of Alzheimer's.
*Diagnosis:*
1. Prenatal testing (amniocentesis, chorionic villus sampling).
2. Postnatal diagnosis (physical examination, genetic testing).
*Treatment and Management:*
1. Early intervention programs.
2. Speech and language therapy.
3. Occupational and physical therapy.
4. Medications for related health issues.
5. Supportive care.
*Types of Down Syndrome:*
1. Trisomy 21 (most common).
2. Mosaicism (mix of normal and abnormal cells).
3. Translocation (part of chromosome 21 attached to another chromosome).
*Interesting Facts:*
1. 1 in 700 births.
2. Over 5 million people worldwide have Down syndrome.
3. Life expectancy: 50-60 years (increasing with medical advancements).
4. Individuals with Down syndrome can lead fulfilling lives with proper support.
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