Down syndrome, trisomy 21 (also referred to as Down's Syndrome) is a genetic 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 first described it in 1866.

Down syndrome symptoms may include:

Decreased muscle tone at birth

Separated sutures (joints between the bones of the skull)

Asymmetrical or odd-shaped skull

Round head with flat area at the back of the head (occiput)

Small skull (microcephaly)

Upward slanting eyes, unusual for ethnic group

Small mouth with protruding tongue (see tongue problems)

Broad short hands

Single crease on the palm

Retarded growth and development

Delayed mental and social skills (mental retardation)

Iris lesion (an abnormality of the colored part of the eye called Brushfield spots)

Testing for Down syndrome

A heart murmur may be revealed by listening to the chest with a stethoscope. The above mentioned characteristic abnormalities are also revealed by a physical examination.

Down syndrome testing:

Once the suspicion of Down syndrome has been raised, genetic testing called Chromosome Analysis is carried out. This testing is usually done on a blood sample, although chromosome analysis can also be done on other types of tissue, including skin. The cells to be studied are prepared in a laboratory. Chemical stain is added to make the characteristics of the cells and the chromosomes stand out. They are examined under a microscope and photographed. The photograph is used to sort the different sizes and shapes of chromosomes into pairs. In most cases of Down syndrome, one extra chromosome 21 will be revealed. The final result of such testing, with the photographed chromosomes paired and organized by shape and size, is called the individual's karyotype.

Additional Tests for Down syndrome can include:

Chest x-ray (to determine presence of cardiac abnormalities)

Echocardiogram (to determine nature of cardiac abnormality)

ECG

Gastrointestinal x-ray (to show obstruction if symptoms are suggestive)

Treatment for Down syndrome

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.

For instance, be patient and encouraging with Down syndrome sufferer as he or she learns to walk and master other developmental skills, such as turning over, sitting, standing, and talking.

Enrolling Down syndrome sufferers (infant through age 3) in early-intervention programs can be beneficial. These programs have staff who are trained to monitor and encourage your child's development. Talk with a health professional about programs available in your area.

Basic skills, such as learning to feed oneself and dress independently, also take longer to accomplish for children with Down syndrome. Set aside time each day to practice and keep a positive attitude when helping your child learn these tasks.

You also can encourage learning and socialization opportunities, in a child with Down syndrome, such as by enrolling him/her in classes with other children of the same age. Try to stimulate your child's thinking skills without making tasks too difficult. However, recognize that it is okay for your child to be challenged and sometimes fail.