The disease I would like to write about is called Down syndrome. Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46. Usually Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called Trisomy 21. The extra chromosome causes problems with the way the body and brain develop. Down syndrome is the most common single cause of human birth defects. There is a wide variety of symptoms when having Down syndrome. There is no specific treatment for this disease. There is no cure for Down syndrome, although there are preventative measures that can be taken.
Down syndrome symptoms vary from person to person and can range from mild to severe. Children with Down syndrome have a widely recognized appearance. Some of the common physical signs include: decreased muscle tone at birth, excess skin at the nape of the neck, a flattened nose, separated joints between the bones of the skull, a single crease in the palm of both hands, small ears, small mouth, upward slanting eyes, wide and short hands with short fingers, and white spots on the colored part of the eyes.
Physical development is often slower than normal. Most children with Down syndrome never reach their average adult height. Children may also have delayed mental and social development. Some common problems that may develop include: impulsive behavior, poor judgment, short attention span, and slow learning. Frustration and anger slowly develop when children with Down syndrome become aware of their limitations.
There are many medical conditions associated with Down syndrome. Such conditions include birth defects in the heart, dementia, eye problems, massive vomiting, hearing problems, hip problems, long-term constipation problems, sleep apnea, and underactive thyroid. Some examples of birth defects involving the heart are atrial septal defect and ventricular septal defect. Dementia is a general term for a decline in mental ability severe enough to interfere with daily life. Eye problems, such as cataracts, cause most people with Down syndrome to need glasses. Early and massive vomiting may be a sign of a gastrointestinal blockage, such as esophageal atresia and duodenal atresia. Hearing problems are probably the result from regular ear infections as a child. People with Down syndrome are put at risk of dislocation of the hip because of the hip problems that occur. Sleep apnea occurs more with people that have Down syndrome because the mouth, throat, and airway are narrower.
There is not a treatment for people who have Down syndrome. If one with Down syndrome has a heart defect, surgery may be needed. Sleep apnea can be controlled with breathing machines. If eye problems occur, surgery or glasses would be the result. Medications can be administered for vomiting. Hearing aids help with hearing problems. But as far as treating Down syndrome, there isn’t a treatment now.
Preventative measures can be taken before pregnancy. Examples include genetic counseling for persons wanting a baby, who have family history of Down syndrome. Another preventative measure that can be taken is to have a baby before the age of 35. Women who get pregnant later in life, increases their chance of having a child with Down syndrome. Couples, who already have a baby with Down syndrome, have a higher chance of having another baby with the same condition.
There are keys to parenting a child with Down syndrome. The extent of the babies influence depends upon the