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Down syndrome

Also known as Trisomy 21 Syndrome

Down syndrome (DS) or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. Down syndrome is the most common chromosome abnormality in humans. It is typically associated with a delay in cognitive ability (mental retardation, or MR) and physical growth, and a particular set of facial characteristics. The average IQ of young adults with Down syndrome is around 50, whereas young adults without the condition typically have an IQ of 100. (MR has historically been defined as an IQ below 70.) A large proportion of individuals with Down syndrome have a severe degree of intellectual disability.

Source: Wikipedia

What are the symptoms?

Within all the people who go to their doctor with down syndrome, 35% report having nasal congestion, 35% report having fever, and 32% report having cough. The symptoms that are highly suggestive of down syndrome are lack of growth and infant feeding problem, although you may still have down syndrome without those symptoms.


What might my doctor prescribe?

Common Tests and Procedures

Patients with down syndrome often receive complete physical skin exam performed (ml), other diagnostic procedures (interview; evaluation; consultation), mental health counseling, occupational therapy assessment, physical therapy exercises, hemoglobin a1c measurement, echocardiography and upper gastrointestinal endoscopy; biopsy .

Common Medications

The most commonly prescribed drugs for patients with down syndrome include ofloxacin, brompheniramine (e.n.t.), simethicone (degas), pegaspargase, benzocaine/butamben/tetracaine topical, lacosamide (vimpat), antihemophilic factor (obsolete), thioridazine, scopolamine, emollients, topical, brompheniramine / phenylephrine, barium sulfate and triiodothyronine (cytomel) .

Who is at risk?

Groups of people at highest risk for down syndrome include age 5-14 years, age 1-4 years and age < 1 years. On the other hand, age 75+ years almost never get down syndrome.

Age

< 1 years
3.9x
1-4 years
3.7x
5-14 years
2.6x
15-29 years
0.8x
30-44 years
0.6x
45-59 years
0.6x
60-74 years
0.2x
75+ years
0.0x

Sex

Male
1.2x
Female
0.9x

Race/Ethnicity

Black
0.9x
Hispanic
1.4x
White
0.9x
Other
1.0x
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