Friday, July 30, 2010

What Causes Down Syndrome? By Aaroah Sunil

What is Down's Syndrome

Down's syndrome is defined as a disease that comes about because of a genetic abnormality that negatively affects the mental capabilities and physical features of an affected person. Individuals with this condition quite often experience varying degrees of medical and physical issues. Some people with the disease are able to successfully lead moderately regular lives while others need persistent medical care. It affects 1 in 800 newborns and is said to be more common with older mothers. The disease cannot be prevented, however it can be discovered in utero, before the baby is born. There is still much controversy in relation to the ramifications of genetic testing for Down'ssyndrome. It has been observed that an estimated 90-93% of pregnancies with a Down's babies were aborted once this was identified through various forms of genetic testing methods.

The outlook for children with Down's syndrome has significantly improved in recent years. The regular life span for an individual with Down's syndrome was 25 years old in the 1980's it has now risen to 49 years of age in present times. People with the disease will usually be infertile especially males who are only partially fertile in extremely rare instances. Most children with Down's syndrome will also experience noticeably reduced cognitive abilities. However, with needed medical intervention, family support and vocational training the child with down syndrome can learn to overcome, to some extent, his or her disabilities.

What Causes Down's Syndrome

The disease as mentioned before is caused by a genetic irregularity. A normal person will have 46 chromosomes, 23 of which will be inherited from either parent. In an individual with Down's syndrome he or she will have an overall number of 47 chromosomes or essentially 1 more chromosome than is expected. This chromosomal abnormality manifests because of an extra copy of the 21st chromosome. The effect of the extra copy will vary among affected people.

The condition cannot be prevented and is said to be a randomly occurring event. However women over the age of 35 are at an increased risk of conceiving a child with Down syndrome. The risk for different age groups are listed below:

o Women who are 25 years of age will typically have a 1in 1,250 chance of having a Down's baby.

o Women who are 30 years of age will normally have. 1 in 1000 chance of having a Down's baby.

o Women who are 35 years of age will normally have 1in 400 chance of having a Down's baby.

o Women who are 40 years of age will typically have 1 in 100 chance of having a Down's baby.

o Women who are 45 years of age will normally have. 1 in 30 chance of having a Down's baby.

The odds of conceiving a child with Down's Syndrome may also be associated with a familial genetic irregularity. A person who has a balanced translocation will not show any signs of down syndrome but will have an elveated risk of conceiving a child with translocation Down syndrome. The estimated risk is 1 in 5 for the female carrier and 1 in 50 for a male carrier. In some cases where there is no unattached copy of chromosome 21 the carrier's offspring will all have Down's Syndrome. The affected parent is therefore said to be a translocation carrier. This sort of Down's syndrome is said to occur in 2-3% of all Down's syndrome cases.

The article titled What Causes Down Syndrome is written by Dr.Nolan. Click here to understand more regarding What Causes Down Syndrome.

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Sunday, July 25, 2010

Down Syndrome Facts and Statistics By C L Talbert

Wikipedia states that, "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 Jérome 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 can be identified during pregnancy or at birth."

People with Down Syndrome usually have lower than average cognitive ability and may have learning disabilities as well. It is estimated that 1 per 800 to 1,000 births result in babies with Down Syndrome. Expectant mother's over the age of 35 are at greater risk of having a baby with Down Syndrome. One out of every nineteen babies from mothers over the age 45 have Down Syndrome. Many standard prenatal screens can discover Down syndrome. Ask your doctor about these screenings if you are at risk.

Some physical characteristics of individuals with Down Syndrome include, muscle hypotonia (poor muscle tone), a protruding tongue (due to small oral cavity, and an enlarged tongue near the tonsils), a short neck, oblique eye fissures with epicanthic skin folds on the inner corner of the eyes, excessive joint laxity including atlanto-axial instability, and congenital heart defects. These are not all of the characteristics of Down Syndrome and people with this disorder may have just some or all of these.

For more information on health and disabilities visit Healthy Moms- Parenting, Pregnancy, Health and Women's Issues.

Ms. Talbert is a freelance writer, mother of three and editor of Healthy Moms- Parenting, Pregnancy, Health and Women's Issues. Visit Healthy Moms at http://thehealthymoms.blogspot.com

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Wednesday, July 21, 2010

Answering Your Down Syndrome Questions By Mike Selvon

Having a child is a huge responsibility. Even before the child is born there are things that expectant parents must do to ensure that their child is safe. But there are occasions and conditions that cannot be avoided. Down syndrome is not picky on what infant it strikes. It does not know socioeconomic barriers and there is no cure.

But there is hope for that child and his or her parents. Unlike the past, many children with this genetic disorder can still lead fulfilling lives. Thanks to new treatment options and available education, parents can help their child make it in this world. This article will cover some of the basics of this disorder and hopefully shed a little light on any questions you may have.

How do doctors identify it genetically?

While a woman is pregnant there are ways to determine if Down syndrome is present. The first test is a routine prenatal screening to detect a wide variety of disorders. If the test comes back positive for Down's syndrome, the mother has the option of having an amniocentesis performed.

During this procedure a needle is inserted into the abdomen and amniotic fluid is taken. The doctors can then test specifically for the disorder. The overwhelming sign of Down's syndrome is the presence of a 21st chromosome.

What are some characteristics of Down syndrome children?

There are certain characteristics that are associated with Down syndrome individuals. Their physical appearance will be similar. There will be a slanting of the eyes, a round face and often a distended tongue that can make speech difficult.

Often the individual will have poor muscle tone and can even have white flecks on the iris called Brushfield spots. Some of the characteristics will not be immediately obvious such as congenital heart defects, sleep apnea and more space between the big toe and the rest of the toes. Unfortunately having Down's syndrome also means having a degree of mental retardation.

Does a Down syndrome child need specialized care?

Yes, most Down syndrome children will need specialized care. The child may have a speech problem and need to work with a speech therapist. The child may have poor muscle tone and have to work with a physical therapist. If there are emotional barriers, the parents have to work with the child to help them adjust to school and different emotional situations that may arise.

Many Down's syndrome children have physical problems that have to be constantly monitored such as congenital heart defects. With the right treatment and care the child can learn to be full functioning as an adult. Some individuals with this genetic condition can even live by themselves and hold down jobs. It is even possible for them to marry and have a family.

How severe is the retardation associated with Down syndrome?

The mental retardation associated with Down syndrome varies from child to child. It can be quite pronounced with a mental IQ of less than 35. Mild retardation is classified by an IQ score of 50-70. The only way to find out the extent of the child's mental facilities is through testing. Some parents want to know and others prefer not to subject their children to further testing just to classify the mental abilities.

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