Saturday, March 21, 2009 @ 10:33:00 AM
Today is
Down Syndrome Day. (21 March)
So, any idea what is Down Syndrome? Wikipedia tells you:-
Down syndrome, 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 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.
Many of the common physical features of Down syndrome also appear in people with a standard set of chromosomes. They may include a
single transverse palmar crease (a single instead of a double crease across one or both palms, also called the Simian crease), an almond shape to the eyes caused by an
epicanthic fold of the eyelid, upslanting
palpebral fissures (the separation between the upper and lower eyelids), shorter limbs,
poor muscle tone, a larger than normal space between the big and second toes, and protruding tongue. Health concerns for individuals with Down syndrome include a higher risk for
congenital heart defects,
gastroesophageal 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.
