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Also known as Down’s syndrome, or trisomy 21 is a chromosomal disorder caused by the presence of all
or part of an extra 21st chromosome. It is the most common chromosomal abnormality.
Down syndrome is a chromosomal disorder caused by an error in cell division that results in the presence of
an additional third chromosome 21 or "trisomy 21.
Is the most frequent genetic cause of mild to moderate mental retardation and associated medical problems
and occurs in 1 out of 800 live births, in all races and economic groups.
Background:
It is named after John Langdon Down, the British doctor who described the syndrome in 1866.
The disorder was identified as a chromosome 21 trisomy by Jérôme Lejeune in 1959.
The condition is characterized by a combination of major and minor differences in structure.
Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as
facial appearance.
Down syndrome in a baby can be identified with amniocentesis during pregnancy or at birth.
Individuals with Down syndrome tend to have a lower than average cognitive ability, often ranging from mild
to moderate developmental disabilities.
A small number have severe to profound mental disability.
The incidence of Down syndrome is estimated at 1 per 800 to 1,000 births, although these statistics are
heavily influenced by the age of the mother. Other factors may also play a role.
Health concerns for individuals with Down syndrome include a higher risk for congenital heart defects,
gastro esophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid
dysfunctions.
Early childhood intervention, screening for common problems, medical treatment where indicated, a
conducive family environment, and vocational training can improve the overall development of children
with Down syndrome. Although some of the physical genetic limitations of Down syndrome cannot be
overcome, education and proper care will improve quality of life.
Etiology:
The cause is unknown and multiple theories exist. The concept of multiple causality is most accepted.
Cytogenetics of the disorder are well established.
Approximately 92% to 95% of cases are attributed to an extra chromosome 21 hence the name trisonomy
21.
About 3-6% of cases maybe caused by translocation of chromosomes 15 (21 or 22).
From 1-3% of persons demonstrate mosaicsm (cells with both normal and abnormal chromosomes).
Children with down syndrome are born to parents of all ages. Although there is a higher incidence among
mothers over age 35, most are born to mothers under age 35 (80%).
Pathophysiology:
The degree of cognitive and physical impairment is related to the percentage of cells with the
abnormal chromosome makeup.
Clinical Manifestations:
1. Separated sagittal suture
2. Oblique palpebral fissures
3. Small nose
4. Depressed nasal bridge
5. High-arched palate
6. Skin excess laxity
7. Wide space and plantar crease between the big and second
toe.
8. Hyperextensible and lax joints
9. Muscle weakness
*Other common findings include a small penis, short, broad
hands (transverse (simian) palmar crease), a protruding tongue,
small ears, Brushfield spots, and dry skin.