Down Syndrome is a disease of intellectual disability. Nearly 0.5% of all human conceptions are trisomic for chromosome 21[three copies of chromosome 21 (trisomy 21) or a chromosome rearrangement that results in three copies of a region of the long arm of chromosome 21] .
The presence of a fetus with Down Syndrome can be detected in many pregnancies in the first or early second trimester through screening maternal serum for alpha-fetoprotein and other biomarkers .The chance of bearing a child with Down Syndrome increases exponentially with the age of the mother at conception and begins a marked rise after age 35 . By age of 45 years , the odds of having an affected child is as high as 1 in 40 .
SYMPTOMS
Down Syndrome is usually diagnosed at birth on the basis of typical craniofacial features, hypotonia, and single palmar crease . Several serious problems that may be evident at birth or may develop early in childhood include duodenal atresia, congenital heart disease (especially atrioventricular canal defects ), and hematologic malignancy. Many people with Down Syndrome do well in sheltered workshops and group homes, but few achieve full independence in adulthood . Other frequent complications include atlanto-axial instability, celiac disease, frequent infections due to immune deficiency, and hypothyroidism.
TREATMENT
Duodenal atresia should be treated surgically. Congenital heart disease should be treated as in any other patient. No medical treatment has been proven to affect the intellectual capacity. An affected young patient should be hospitalized when he or she has failure to thrive , regurgitation, breathlessness or easy bruising.
For Informational purpose only. Consult your Physician for advice.