Down Syndrome By Kok Siong Chen

Down syndrome is a common genetic chromosomal syndrome among the population in the world. It is about 1 in 800 liveborns in the population with Down syndrome. This syndrome is starts to be described by a physician named John Langdon Down who published an article in 1866. He stated that there are some children with common characteristics but distinct from other children with mental retardation. He described this syndrome as "Mongoloids". He used this unfortunate name just because of those children looked like people from Mongolia. The "Mongoloids" was dropped from scientific use since 1960s to stop the ethic insult.

About 95% of all patients with Down syndrome have a 47, +21 karyotype. Among these cases there is a small group with familial translocation involving a chromosome 21 and another chromosome with balanced rearrangement. There are some very rare instances of direct transmission of the additional 21 from a Down syndrome mother or father to a Down syndrome child.

Down syndrome patient looks almost alike to each other. We can simply identify the Down syndrome patient by just looking to their physical outlook. However, a confident clinical diagnosis might be difficult early after birth, especially in prematures. Some of the useful diagnostic signs are brachycephaly (flat-head), small ears, Brushfield spots (brown spots on the periphery of the iris) and low iliac and acetabular index in pelvic radiographs. Congenital malformations are frequent in Down syndrome patients too. Thyroid dysfunction is also significantly associated with Down syndrome and might be the cause for developmental delay. Mentally retardation is the most common feature among the Down syndrome patients.

Generally, female menarche occurs at normal time and pregnancies are common among the Down syndrome patients. However, there is hypogenitalism and hypogonadism among the male patients. Therefore, the male with Down syndrome usually is infertile.

In conclusion, Down syndrome patients need to be taken care as there are various specific problems throughout their life. I will write more about the guideline for optimal medical care on these Down syndrome patients later.

Kok Siong Chen - blog about Cytogenetics and Cancer Research. Visit the blog or subscribe via EMAIL to get more about Cancer Research.

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Downs Syndrome Poses Obesity Risk By Phillip Longmire

Having a wife that works with life skill students I know there are all type of problems that arise with special needs students. Its sad because with students and or adults who have special needs will struggle with those needs their entire life, and now obesity seems to be just one more issue. I'm not sure there is an answer to this problem, but it seems that those who have Down's Syndrome posse obesity risk.

If your not sure what Downs Syndrome is, let me give you a working definition. It is a congenital disorder, caused by the presence of an extra 21st chromosome, in which the affected person has mild to moderate mental retardation, short stature, and a flattened facial profile. Also called trisomy

New research has shown that people who suffer from Down's Syndrome are more likely to become obese than those who do not have the condition.

Using families which had both children who had Down's Syndrome and brothers or sisters who did not, scientists were able to ensure that eating patterns offered by parents were very similar and that lifestyle choices and habits accrued as adults would not interfere with the study.

Monitoring 35 children with Down's Syndrome and 33 of their siblings who were free of the condition, researchers from The Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine found that the Down's children had significantly higher body mass index and a higher percentage of body fat.

It was discovered that Down's Syndrome children had higher levels of leptin, a hormone linked to obesity, than their unaffected siblings. "The normal role of leptin is to suppress appetite and regulate body weight," explained senior author Dr Nicolas Stettler in the Jouranl of Paediatrics. "In general, obese people have higher levels of leptin, which suggests that they have some leptin resistance - their bodies do not respond to the hormone properly. Because Down's Syndrome is a chromosome disorder, children with Down's Syndrome may have a genetic predisposition to more severe leptin resistance."

Co-author Dr Sheela N Magge added: "Although the study had an advantage in including siblings as a control group, because this decreases the influence of different environments on children with or without Down's Syndrome, the sample size was limited, so larger studies are necessary. However, our findings may point to a useful approach to understanding why obesity often occurs in Down's Syndrome."

Around 60,000 people in the UK have Down's Syndrome and various charities have produced information for people with learning difficulties to advise them about making healthy eating choices which could help until more research is carried out.

I think as we advance in the fight against obesity and realize the effects it has, perhaps in the future this could be one less thing that people with special needs will have to battle. Because it seems in the earlier stages that people with Down's Syndrome poses obesity risk.

Phillip Longmire has a business degree and is the creator of fitness village [http://fitnessvillage.wordpress.com], a Blog dedicated to those trying to lose weight. He not only transformed his own life but is dedicated to helping others lose weight and live healthier lives.

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People With Down Syndrome Are Not Severely Handicapped By Mike Selvon

Until recently, people with Down syndrome were considered severely handicapped. Yet with better advocacy and pushes toward educational integration, adults with Down syndrome are getting married, working jobs, living independently and living well into their fifties.

Few people can forget the lovable character "Corky" on the hit TV series "Life Goes On," and how he constantly challenged stereotypes and unfair assumptions about those with such a disability. Advances in medicine, social normalization and the expansion of programs to help the disabled are credited with what is sometimes referred to as "the new generation" of Down syndrome.

People who are afflicted with this disability encounter many physical challenges that others do not. Their motor skill development is slow, so they will learn to breastfeed, roll over, walk and talk, as well as teeth later than other children their age. This can be frustrating for both the Down syndrome child and the parents who are repeatedly confronted with their own mistaken expectations.

Another physical risk is, of course, the associated health problems. Many babies with Down syndrome undergo heart, ear and eye surgeries before one year of age. There are later risks of epilepsy, obesity, heart disease, ear infections, thyroid disease, throat infections, pneumonia and osteoarthritis.

Everyday activities can be difficult for people with Down syndrome to cope with. Many disabled children are naturally empathetic and in tune with their parents emotions and they sense the frustration or stress the parents sometimes experience. The extra attention expected of parents is sometimes exhausting and overwhelming, so psychologists recommend that parents attend Down syndrome support meetings to talk to other parents who have Down syndrome children and learn new techniques for raising their disabled child.

One of the things that people with Down syndrome still struggle with is public misperceptions about their condition. For instance, they are often stereotyped as being always happy or "out of it," when in reality Down syndrome children experience a full range of emotions and have quite unique personality traits. However, there are certain coping strategies that work better. For example, routine and order help them control their lives better.

Additionally, self-talk helps them communicate, express themselves and make sense of what's going on. People with learning disabilities generally rebuke change, which has led to the misperception that they are stubborn by nature. Perhaps they are simply trying to understand what's going on and maintain control in their lives. Perhaps they just need a little extra patience from those around them.

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Just What is Downs Syndrome? By David Cowley

It's unfortunate that many people today just don't have the proper understanding of Downs Syndrome and what exactly this means. Some make wrong assumptions about those with this condition, their abilities, and their intelligence level. It's true that many with Downs Syndrome have typically lower than average cognitive abilities, but only a very small percentage of those with this condition are impaired enough to need constant supervision or to keep them from functioning on their own.

The actual condition itself is caused by a disorder of the chromosomes, with all or part of an extra twenty-first chromosome. There are some physical characteristics that are common among those with Downs Syndrome, including almond-shaped eyes caused by a fold in the eyelids. Some also have a particular type of crease on the hands, shorter limbs than average, poorer muscle tone than average, and a protruding tongue. Those with Downs Syndrome are often easy to spot because of these physical characteristics, but rarely do any of those with this condition have physical abnormalities that would keep him or her from functioning in normal circumstances. There is also an increased risk for heart defects, acid reflux disease, ear infection, sleep apnea, and often thyroid disease or disorders. Other than these conditions, those with Downs Syndrome rarely have any type of severe physical limitations or concerns.

This condition is different for everyone that has it in severity and limitations. However, most of those with Downs Syndrome are able to be integrated into public schools, sports, and the workplace. They may have certain limitations when it comes to their understanding of complex concepts but typically can handle money and a budget, manage their own apartment or home, and can also care for a baby when needed. The majority of those with this condition can care for themselves and their family as well as anyone else.

It's very shortsighted to assume that anyone with Downs Syndrome is severely disabled or unable to function or make decisions on his or her own. Again, this condition affects each patient differently, but the vast majority is just as functioning as anyone else.

Some years ago there was a very popular television series that revolved around a young man with Downs Syndrome, his family, and his schooling. They portrayed how successful he was in fitting in with other classmates, making decisions about his own activities, and even in running for class president. The TV series was very realistic about his limitations as well, but was an honest portrayal of what it's like to have this condition. Anyone with Downs Syndrome should be considered as capable and functioning as anyone else, and should be given every chance to succeed.

DO NOT GIVE CALCIUM SUPPLEMENTS. It is believed that large unused quantifies of calcium inn the downs syndrome fetus was a major contributing factor in causing the health related problems. Common Vitamins and over the counter products may help with Downs Syndrome.

Boron is known as the calcium helper and assists calcium absorption and utilization in the body.

Vitamin E promotes the natural body healing mechanism and oxygen to the heart and other muscles in the body. In addition it improves circulation.

Ginkgo is needed for the proper functioning of the vascular system and for improving blood circulation to the brain.

Vitamin B is known to help maintain the normal vasodilatation.

Amino Acid helps regulate growth, digestion and maintaining the body's immune system.

Oat Bran helps to regulate blood glucose levels, aids in lowering cholesterol, and helps in the removal of toxins.

Vitamin C is essential for defending the body against pollution and infections and enhances the immune system.

Always consult your doctor before using this information.

This Article is nutritional in nature and is not to be construed as medical advice.

David Cowley has created numerous articles about the relationship between diseases and vitamins. Visit Health Related Articles Article Source: http://EzineArticles.com/?expert=David_Cowley

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Is There a Link Between Folic Acid and Down Syndrome? By Henri K. Junttila

In past years, research has shown that folic acid can help in the prevention of neural-tube birth defects in unborn children. Babies have been born with part of their brain missing, called anencephaly, or with the medical condition spina bifida, in which the spine is actually on the outside of the body.

These are horrifying defects for expectant parents to think of. There are also studies that suggest a lack of vital nutrition during pregnancy is a factor in children being born with Down syndrome as well. What is the link between folic acid and Down Syndrome?

When there is trouble in the metabolism of folic acid, the occurrence of birth defects is far greater. Those babies born to these mothers have been more likely to be born with medical issues and defects.

Down Syndrome may be one of these as well. In these cases, it is even more unfortunate that the human body doesn't manufacture its own supply of this precious B vitamin. Because of this, a supplement of especially folic acid is essential during pregnancy.

Down's Syndrome occurs in children when the chromosome division goes wrong before egg fertilization. Usually, chromosomes come in pairs. There are 23 pairs.

One is from the mother's egg and one is from the father's sperm. In the cases of Down's Syndrome, there is an extra chromosome number 21. Why this one is affected is unclear. However, that will leave 47 chromosomes instead of the normal number of 46. The result is that unborn developing Down's Syndrome.

The addition of folic acid in mothers before and during pregnancy has been successful in the prevention of birth defects. Recent studies have also shown that Down's Syndrome may also be prevented with additional supplementation of this folate.

The best way to get folic acid is through a supplement. Because of how we must cook and store our food, the nutrients levels are greatly reduced, especially in the case of complex B vitamins.

If you are planning to get pregnant or have learned that you already are, then you must make sure that you get an adequate supplement of this important folate into your diet.

Most doctors prescribe a high nutrient prenatal multivitamin for this reason. Mothers should make it a point to take these every day and eat the foods that contain this nutrient.

The exact link between folic acid and Down's Syndrome remains a mystery, but the best thing to do is to make sure that you take a supplement to increase the chances of your unborn child not being affected by neural-tube defects.

If you are pregnant, please contact your doctor before you start any supplementation. If you aren't pregnant, I highly recommend you go with the best natural multivitamin brand you can find. But again, I am not a doctor!

Down Syndrome Or Up? By Val Haderlie

In 1866, when John Langdon Down came to a point in his research on the chromosomal disorder Trisomy 21 where he could describe the definitive characteristics of this genetic disorder, he simply named it "Down syndrome" after himself. This naming probably had much less to do with the doctor's ego than it had to do with quickly giving his findings a classification and moving forward with his research work.

Until the designation, Down syndrome, was made late in the eighteenth century, people who had the easily recognized physical characteristics of the anomaly were known, among other less appealing labels, as "mongoloid" because of their distinctly oriental facial features. As late as 1972, World Book Encyclopedia had entries for "mongolism" and "mongoloid" but no mention of Dr. Down or of Down syndrome.

And until just a few decades ago, individuals with Trisomy 21 were generally institutionalized for life. Identified babies and young children were taken from parents to become ward of the state. Doctors would calmly advise the devastated parents, "Forget you have this child. Go on with your life. Have another baby. Enjoy your family." Hearts were broken, human potential was wasted, and hopes were crushed and, over the years, parents and families began to rebel. They raised their cry, "No! This is my baby, the child of my heart. You have no right to put this baby away!" They declared, "We will raise this child as part of our family. Our child deserves and will have a life with us, not the State."

Happily, great strides have been made in offering people with Trisomy 21 lives of dignity and productivity. In today's age of enlightenment, much is being done to recognize the capabilities of citizens with Down syndrome. Inclusive education has allowed most people with Down syndrome to function, learn, and adapt in an environment populated mostly by the severely normal, the mainstream. Such an education offers opportunities to behave in socially acceptable ways and to participate in what peers are doing. This situation in itself is a huge step for those who are challenged with mental disability.

The term Down syndrome has had interesting ramifications which include interpreting it as a sad, hopeless and reticent emotional state combined with a condition of mental disability. Nothing could be further from the truth, as those of you who have close association with individuals with Down syndrome can attest. Admittedly, various ranges of mental disability are a given, but in general, those with Down syndrome are happy, congenial, sociable people.

Although debilitating physical challenges may accompany this syndrome, including heart defects and respiratory weakness, a high percentage of individuals with Down syndrome have the health and mobility to live active and emotionally rewarding lives. With early interventions, many speak intelligibly, perform employment tasks reliably, and interact delightfully in social settings. It's too bad that back in 1866, the researcher wasn't named John Langdon Up, but that's okay. It's not too late to change the name. Hooray for Up syndrome!

What Are the Types of Down Syndrome Screening? By Mike Selvon

There are two types of prenatal Down syndrome screening tests. Screening tests can let you know if your baby does not have this chromosomal disorder, while later diagnostic tests can confirm that the fetus does, in fact, have Down syndrome. Generally screenings are done around 11 weeks and later tests, between the 15th and 20th week of gestation, are performed if there is reason to believe the baby may be at risk.

Screening tests are very non-invasive and relatively painless. These Down syndrome screening procedures are primarily done to let parents know whether or not they want further testing done. One screening test for Down syndrome is called Nuchal translucency testing, which is performed between 11 and 14 weeks of pregnancy.

Using ultrasound, doctors can measure the space in the folds of tissue behind a baby's neck where excess fluid typically accumulates for babies with Down syndrome. This procedure accurately predicts Down syndrome 80% of the time. Additionally, a blood test called "the triple screen" or "multiple marker test" is also performed at the 15-20 week mark. Doctors will check the blood for alpha fetoprotein plus, plasma protein-A and the hormone chorionic gondatropin.

The second type of Down syndrome diagnostic tests are about 99% accurate in detecting signs of this chromosomal disorder. However, these procedures are more invasive and sometimes result in a miscarriage or other complications. Typically, doctors only perform these tests on women over 35, if genealogy warrants it or if they've tested positive in the initial screening. Amniocentesis, performed from 16 to 20 weeks, uses a needle to remove a small amount of amniotic fluid from the womb.

While it's an out-patient treatment, women may experience cramping, bleeding and infection, not to mention that 2-3% of patients lose their baby. As a result, amniocentesis is not recommended before the 14th week of gestation. Chorionic villus sampling and percutaneous umbilical blood sampling are other alternatives.

With chorionic villus sampling, a small sample of placenta is removed through a needle inserted into the abdomen. This Down syndrome screening can be done between the 10-12th weeks of gestation. Rate of miscarriage following the procedure is 3-5% and the use of CVS before the 10th week of pregnancy resulted in babies with missing or shortened fingers or toes. At the 20-week mark, percutaneous umbilical blood sampling (PUBS) can test for Down syndrome. A small sample of blood is removed from the umbilical cord and the risks are comparable to amniocentesis.