Down's+Syndrome

=__Down's Syndrome__ =

**__Introduction:__**

What is Down's Syndrome? Down's Syndrome is a genetic disorder which results from having an extra copy of Chromosome 21. This disease is also called Trisomy 21 due to there being three copies of Chromosome 21. This third copy has a significant affect the body and brain's normal development.

**__Mode of Inheritance:__**

Down Syndrome is caused by of a chromosomal disorder. There is an extra copy of Chromosome 21. An extra chromosome resulting in three of a kind is called Trisomy. Trisomy 21 is the most common in newborn babies. 95% of all cases of Down's Syndrome are caused by this extra copy of Chromosome 21. This extra copy can come from the mother or father. If the extra copy happens to come from the mother, she is usually older than 35. Therefore, age commonly contributes to the extra copy.



**__Clinical Description:__**

The physical characteristics of Down's Syndrome is widely recognized. Facial features typically include: small mouth, flattened nose, protruding tongue, upward slanting eyes, and small ears. The eyes may also have an epicanthal fold, a rounded fold of skin, surrounding them. Brushfield Spots, white spots on the colored part of the eye, may also be present. Short stature is often present, as well as short fingers. Babies are often born with low muscle mass and loose joints. The mental retardation levels of Down's Syndrome vary from mild to moderate to severe. Many children often have better motor skills and excel in activities like drawing, painting, completing puzzles, or physical activity. Language skills typically develop slowly because of the higher levels of motor skills. Autistic behavior is also a factor in some children with Down's Syndrome, who suffer with more of an intellectual disability. Children often are born with or develop heart defects. Hearing problems are often a problem due to reoccurring ear infections and the accumulation of inner ear fluid, or serous otitis. Vision problems often occur due to problems in the corneas and lenses. Joints in the neck are often unstable, which lead to a higher risk of paralysis and weakness. Thyroid disease is often a common development, and children also have a higher risk of leukemia. Most of the childhood deaths result from heart problems and leukemia. Alzheimer's disease is also a common factor in people affected by Down's Syndrome, and the disease is often brought on earlier in life. Most sufferers of Down's Syndrome survive to adulthood. The average age of death is 49, however many people reach their 50's and 60's. Culture is not connected to people affected by Down's Syndrome, but some studies have shown that early deaths are more likely to occur in African-Americans. The study also included that this could be because of poor access to medical, educational, and therapy support.

__**Treatment:**__

There is no cure for Down's Syndrome, and it cannot be prevented. For a child with Down's Syndrome, the earlier that parents develop a support team of specialists and daily medical care. In addition to a primary care physician and pediatrician, other specialists may include: a pediatric gastroenterologist, cardiologist, endocrinologist, audiologist, developmental pediatrician, a physical therapist, speech therapist, and/or an occupational therapist. Entering children in early developmental classes and programs may give the child a better chance of success and faster development. Gene therapy is also not a treatment option for Down's Syndrome. Gene therapy alters the person's genetic code, but will not remove an extra chromosome. However, this may "turn off" the extra chromosome in the early embryotic stage. Although this may help, the physical damage of Down's Syndrome will have already taken place, and while it may slow down the mental side effects, within a year, those will also worsen.
 * __ Detection: __**

A Down's Sydrome screening is often a routine part of prenatal care. There are many screening tests used to identify the risk of Down's Syndrome. Around the 16th week of pregnancy, blood tests are performed to screen for Down's Syndrome, Spina Bifida, and various other chromosomal disorders. If the screening test determines a high risk of Down's Syndrome, more invasive screenings may be performed to determine the actuality of the results. After birth, the baby's appearance is often the initial diagnosis of Down's Syndrome. The doctor usually will order a chromosomal karyotype test if the child displays some or all of the characteristics. This test analyzes the child's chromosomes and will show an extra chromosome 21 present in all or some of the cells, which truly diagnoses the child with Down's Syndrome. Many women find it beneficial to consult a Genetic Specialist so that their DNA may be studied. This will give them the option and information about whether they are possible carriers for certain genetic disorders, and also how high of a risk their potential baby will have.

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