Down Syndrome (Trisomy 21)

What is Down Syndrome (DS)? Down syndrome is a genetic disease which happened on the people because an error occur during cell division, one cell has two 21st chromosomes instead of one, so the resulting fertilized egg has three 21st chromosomes (called trisomy 21) and often leads to mental retardation.

Down syndrome children may have physical development and mental development problems, typically they grow slowly and remain smaller than other children of similar age and also children with down syndrome are have mental retardation, or cognitive disability and other developmental delays.

In other word, People with Down syndrome are first and foremost human beings who have recognizable physical characteristics and limited intellectual endowments which are due to the presence of an extra chromosome 21.

Those children who diagnosed as down syndrome may also have other health problems, such as heart disease, intestines, dementia, hearing, eyes, thyroid and skeleton problem.

The chance of having a baby with Down syndrome increases as a woman gets older. Down syndrome cannot be cured. However, many people with Down syndrome live productive lives well into adulthood.

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Causes of Down Syndrome

Down syndrome cause by an errors of genetic condition, its can occur during cell division. Human cells normally have 46 chromosomes which can be arranged in 23 pairs during cell division, Sometimes this division does not happen properly and one cell may contain 22 chromosomes and the other may contain 24 chromosomes (this accident is called "nondisjunction").

Children or infant those diagnosed as down syndrome are have an extra (third) copy of the 21st chromosome (Trisomy 21). If the cell containing 24 chromosomes combines with a cell containing 23 chromosomes, the new cell will contain 47 chromosomes instead of 46.

Because of that, during cell division in down syndrome cases may one cell has two 21st chromosomes instead of one, so the resulting fertilized egg has three 21st chromosomes (called trisomy 21). Other conditions arise if the duplicated chromosome is a different chromosome. If the trisomy is chromosome 13, the person will have Patau's syndrome. If the trisomy is chromosome 18, the person will have Edward's syndrome.

The parents who has a child with Down syndrome due to translocation trisomy 21, its possible for them an increased likelihood of Down syndrome in future pregnancies, because one of the two parents may be a balanced carrier of the translocation.

Down syndrome is not attributable to any behavioral activity of the parents or environmental factors, it is happened cause by genetic's problem only. No one knows why this condition can be happened and there's no way to prevent the chromosomal error that causes down syndrome.

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Sign & Symptom Down Syndrome

Children with down syndrome they have an extra (third) copy of the 21st chromosome (Trisomy 21), the smallest human chromosome. Normally, human's cell contains 23 pairs of chromosomes which carry all of a person's genetic information.

Down Syndrome is a genetic condition, parents of down syndrome children don't have any symptoms themselves. Advanced maternal age is associated with a high incidence of Trisomy 21, the chance of having a Down syndrome birth depends on the mother's age.

Chance of baby having down syndrome has been linked to the mother's age. Womens are who delivery her first child when her age under 25 years old, the odds of having a child with Down syndrome are about 1 in 1,400. The odds at age 35 are about 1 in 350 and at age 40, the odds are about 1 in 100.

The extra genes result in certain characteristics including some degree of mental retardation, or cognitive disability and other developmental delays. Physical findings do change as the child ages and certain features may become more or less noticeable with time.

Generally, sign and symptom of down syndrome are oblique eye fissures with epicanthic skin folds on the inner corner of the eyes, a single palmar fold (also known as a simian crease), muscle hypotonia (poor muscle tone), a short neck, a flat nasal bridge, a protruding tongue (due to small oral cavity, and an enlarged tongue near the tonsils), white spots on the iris known as Brushfield spots, excessive flexibility in joints, congenital heart defects, excessive space between large toe and second toe, a single flexion furrow of the fifth finger, and a higher number of ulnar loop dermatoglyphs.

Children with Down syndrome can have serious abnormalities affecting any body system, Infants born with Down syndrome may be of average size, but typically they grow slowly and remain smaller than other children of similar age.

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Treatment of Down Syndrome

Down Syndrome or Trisomy 21 is one of genetic disorder that until now still don't have specific treatment, an early intervention programs like a physical therapy, occupational therapy, and speech therapy, are helpful for the children who was diagnosed as down syndrome.

The parents are should be encouraged to talk with a medical's professional team or their doctors to understand the relevant down syndrome facts after their child has diagnosed as down syndrome. This is an important thing to do, parents can do an early childhood intervention program at home to help and improve the overall development of children with Down syndrome.

Usually the doctor or medical team they will give as much as information about down syndrome and special knowledge how to do the treatment at home for the child who has down syndrome, such as teaching their child language, cognitive, self-help, and social skills, and specific exercises for gross and fine motor development.

Down syndrome may has some physical problem such as vision problems, hearing loss, infection, and hypothyroidism (low thyroid hormone) is increased, screening and treatment its can be necessary.

Children with down syndrome sometime has some of complications disease such as heart defects, gastrointestinal problems and hearing problems. By reporting and bring them to the doctor (Pediatric Cardiologist, Gastroenterologist, Developmental Pediatrician and other specialists), So they can detect and treat complications may happened to the child with Down syndrome.

Those peoples or children with Down syndrome should have plenty of opportunities to participate in community life and should participate in social activities, sports, and other aspects of society during the growing years.

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