Down Syndrome

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Down Syndrome by Mind Map: Down Syndrome

1. Emotional and behavioral therapies

1.1. children with Down syndrome might have communication issues and get frustrated easily, therapy can help ease compulsive behaviors.

2. examines a sample from the placenta.

3. Pathophysiology

3.1. Down syndrome is a genetic disorder caused when abnormal cell division causes an extra full or partial copy of chromosome 21.

3.2. Before or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate (nondisjunction).

3.3. This extra genetic material causes developmental changes and physical features of Down syndrome.

4. Diagnostic Tests

4.1. If the Down syndrome screening shows a higher chance of Down syndrome, other tests are performed during pregnancy.

4.1.1. Screening includes tests done during the first and third semester of pregnancy such as blood tests that checks the levels of certain proteins in the mother's blood.

4.2. Amniocentesis

4.2.1. tests a sample of the amniotic fluid.

4.3. Chorionic villus sampling (CVS)

4.4. Percutaneous umbilical blood sampling (PUBS)

4.4.1. takes a blood sample from the umbilical cord (most accurate test).

4.5. Down syndrome diagnosis after birth includes a blood work to check for genetic disorders.

5. Treatments

5.1. Early Intervention and Educational Therapy

5.1.1. Many therapies can be used in early intervention programs and throughout a person's life to create the best development, independence, and productivity.

5.2. Physical therapy

5.2.1. includes activities and exercises that help create motor skills, improve muscle strength, and increase posture and balance.

5.3. Speech-language therapy

5.3.1. children with Down Syndrome have delays in communication, a speech pathologist can help them with pronounciation skills such as imitating sounds.

5.4. Occupational therapy

5.4.1. can assist children with Down syndrome with daily tasks such as eating, writing, dressing or using a computer.

5.5. Drugs and Supplements

5.5.1. amino acid supplements and antioxidant supplements have been studied but showed no evidence of efficacy.

5.6. Assistive Devices

5.6.1. adapted devices, pencils, touchscreen computers, and larger keyboards.

6. Common findings

6.1. Low nasal bridge

6.1.1. Epicanthal folds

6.1.1.1. Small hands and feet

6.2. Protuding tongue

6.2.1. Flat, low-set ears

6.2.1.1. Small ears

6.3. Poor muscle tone

6.3.1. Short stature

6.3.1.1. A single line across the palm of the hand (palmar crease)

6.4. Higher risk to develop:

6.4.1. Heart disease

6.4.1.1. Vision problems

6.4.1.1.1. Hypothyroidism

7. Genetic

7.1. Nondisjunction is an error that occurs when homologous chromosomes or sister chromatids do not separate during meiosis or mitosis. It results in an embryo with three copies of chromosome 21 instead of the usual two.

7.2. Trisomy 21: around 95% of people with Down syndrome have Trisomy resulted from nondisjunction.

7.3. Translocation Down syndrome: affects about 3% of people with the syndrome- it occurs when an extra part or a whole extra chromosome 21 is present, but it is “trans-located” to a different chromosome rather than being a separate chromosome 21.

7.4. Mosaic Down syndrome: present in only 2% of the people with the syndrome. It is a combination; some of their cells have 3 copies of chromosome 21, but other cells have the regular two copies of chromosome 21, with less severe effects.

8. Causative/Risk Factors

8.1. Increased maternal age

8.2. Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome.

8.3. However, the majority of babies with Down syndrome are born to mothers younger than 35 years old, because there are many more births among younger women.