Detecting Down Syndrome

Ultrasounds and detecting Down Syndrome Ultrasound tests can be done in the first trimester to check for early signs of Down's Syndrome, such as thicker than normal neck skin.Ultrasound tests are frequently performed not only to check on the progression of the pregnancy, but to find out the baby's gender and size.In addition, of course, babies move around like mad as any pregnant lady who's tried to sleep through a kicking child can attest.While testing procedures have improved greatly, keep this small chance in mind when looking at test results.

The mother will be moving slightly during the test, no matter how hard she tries to be still.This risk is why avoiding them as much as possible is a good idea.Ultrasound is not a definitive test for a number of reasons.

Use of ultrasound and maternal blood testing can help avoid the necessity of the more definitive tests.Retrieved from "http://www.Amniocentesis involves taking a sample of amniotic fluid from within the placental sac.Sceening the baby more invasively Be aware that these tests carry a small risk of endangering the baby and the mother because all of them involve physically invading the uterus for a tissue sample.Because these tests involve breaching the integrity of the uterus and/or placental fluid sac, they have a small chance of causing a miscarriage or other damage.False positives are maddening, stressful errors in the testing process, and can lead new parents to believe they have a child with Down's Syndrome when, in fact, they don't.

However, if screening up to this point has indicated a strong possibility of Down's Syndrome in your baby, you may want to go ahead and have the more definitive tests done to get a real, concrete answer.Children with Down's Syndrome are, first and foremost, children, with all the capacity for love, wonder and life implied thereby.These tests include umbilical cord blood testing, sampling of placental tissue, and amniocentesis.Her breathing moves her uterus, if nothing else.Maternal Blood Screening If the ultrasounds indicate that the unborn baby may have Down's Syndrome, maternal blood screening is a good next step.While ultrasound testing is usually a lovely bonus for any parent, these tests can be invaluable life-savers to parents who believe their child to be at risk for Down's Syndrome.These blood tests are taken from Mom and look for several factors in her blood that indicate potential Down's Syndrome.

In addition to advances in ultrasound, maternal blood screening tests have advanced to the point where more dangerous procedures can frequently be avoided.As diagnosis occured before birth, you have the opportunity to maximize your child's capability, potential and quality of life.Because ultrasound testing involves bouncing sound waves in order to get a clear picture, movement can give false results either way.However, these early ultrasound tests can help both doctors and parents make informed decisions to proceed or not with further Down's Syndrome tests.

Conclusion If the tests should come up positive, realize that your child can enjoy a happy and full life with early intervention and loving care.In the early second trimester, an ultrasound test may be able to show another potentially problematic sign, the lack of a normal nasal bone.Combining ultrasound and maternal blood tests The combination of ultrasound and maternal blood testing increases the odds of early detection to 90% with only 5% erroneous positive results of detecting down syndrome.

Early Intervention for Children with Down syndrome by using Physical Therapy

How to Treat Down Syndrome With Physical Therapy?

The goal of physical therapy in Down Syndrome is to help the child learn to move his body in appropriate ways.Use physical therapy to teach a child to move, sit and walk properly.So the goal of physical therapy is to teach proper physical movement.For example, hypotonia in a child with Down Syndrome may cause him to walk in a way that is not posturally correct.Because there are several levels of severity in the symptoms of Down syndrome, an early consultation with a physical therapist can help you determine when to get started and what type of therapy is needed to best help your child.

This can lead to problems, such as pain, in the future.Down syndrome children learn to walk later than other children and need help developing muscle strength and coordination to make the process easier.Physical therapy can be used to treat Down syndrome children, especially at a later age, when the basic skills have already been learned.

This is called compensation.Without physical therapy many, if not most, children who have Down Syndrome will adjust their movements to compensate for their low muscle tone.Sitting, rolling over and jumping or climbing also require practice through special exercises that a physical therapist can especially design.


The Opportunity of Physical Therapy

But there is actually an opportunity beyond the development of motor skills of which parents may wish to take advantage while their child is receiving physical therapy.They have a different style of assimilating information, and therefore, the usual methods of instruction are less effective.If physical therapy has achieved the goal of minimizing the development of abnormal movement patterns, it will have influenced the health of the child with Down Syndrome throughout the course of his or her life.The opportunity is for parents to use the arena of gross motor development to begin to understand how their child learns.There are many other challenges to come including language, education, and the development of social skills, but learning gross motor skills is the first developmental challenge.

There is mounting evidence that children with Down Syndrome do not learn in the same manner that typical children do.The development of gross motor skills is the first learning task that the child with Down Syndrome and his parents face together.Knowing how to facilitate their child's learning will be critical to their success in collaborating with their child throughout his or her lifetime.

Wishart (1991),a psychologist at the University of Edinburgh in Scotland, has done leading edge work in studying how children with DS learn. She writes:

Despite the absence of an adequate developmental database, theory and practice in this area have nonetheless continued to assume that the process of learning in children with Down syndrome is essentially a slowed-down version of normal cognitive development. An increasing number of recent studies are suggesting that this 'slow development' approach may be ill founded and that learning may differe significantly in structure and organization from that found in ordinary children...

Infants with Down syndrome consistently showed evidence of underperforming, with avoidance routines being produced on many of the tasks presented, regardless of whether these were above or below the infant's current developmental level. New skills, even once mastered, proved to be inadequately consolidate, often disappearing from the infant's repetoire in subseequent months. Follow-up studies using a wider range of tasks proved additional evidence of this tendency to 'switch out' of cognitive tasks, with many children failing on items which should have been within their capabilities and which had ben passed in earlier sessions...

Regardless of whether these irregular performance profiles reflect genuine developmental instability or are the result of fluctuating motivation in assessment-type situations, it remains that if test behaviour is typical of behaviour in other, everyday situations, development itself must be compromised.

Therefore, it is very important the physical therapist is trained and knowledgeable in the ways in which children with Down Syndrome tend to compensate for their low muscle tone, loose joints, and other musculoskeletal differences.

How can early intervention benefit a baby?
Physical therapy focuses on motor development.

However, they will achieve each of the same milestones as other children, just on their own timetable.Each type of early intervention addresses specific aspects of a baby’s development.Appropriate physical therapy may assist a baby with Down syndrome, who may have low muscle tone, in achieving this milestone.Most children are expected to achieve each milestone at a designated time, also referred to as a “key age,” which can be calculated in terms of weeks, months or years.

For example, during the first three to four months of life, an infant is expected to gain head control and the ability to pull to a sitting positions (with help) with no head lags and enough strength in the upper torso to maintain an erect posture.Development is a continuous process that begins at conception and proceeds stage by stage in an orderly sequence.Because of specific challenges associated with Down syndrome, babies will likely experience delays in certain areas of development.There are specific milestones in each of the four areas of development (gross and fine motor abilities, language skills, social development and self-help skills) that serve as prerequisites for the stages that follow.In monitoring the development of a child with Down syndrome, it is more useful to look at the sequence of milestones achieved, rather than the age at which the milestone is reached.

Reference:
http://www.ds-health.com/physther.htm

http://www.ndss.org/index.php?option=com_content&view=article&id=221:early-in

http://www.about-down-syndrome.com/index.html

Treatments Cures for Down Syndrome

People with Down syndrome are at increased risk for certain medical problems, such as:
* Congenital heart disease
* Leukemia and other cancers
* Immune system problems
* Thyroid problems
* Bone, muscle, nerve, or joint problems
* Hearing problems
* Eye problems
* Seizure disorders
* Developmental delay
* Mental retardation
* Premature aging
* Alzheimer's disease.

Children with Down syndrome (DS) are at increased risk for the development of acute leukemia but they rarely develop other hematologic malignancies or solid tumors. Despite aggressive supportive care, DS patients have increased risk of treatment related morbidity and mortality compared to other children.

Because of these medical conditions and their associated complications, a person with Down syndrome is at increased risk of premature death. Regular checkups are important. These visits help ensure that any changes in health are noted and treated if necessary.

There are no cures for Down syndrome. As a result, Down syndrome treatment focuses on controlling the symptoms and characteristics of the disorder.

TREATMENT
Meeting with a social worker, counselor, or member of the clergy can be helpful for those who want to talk about their feelings or discuss their concerns.People with Down syndrome may want to talk with a member of their healthcare team about finding a support group.Patients and their families often find they need help coping with the emotional and practical aspects of Down syndrome.For example, approximately half of the children with Down syndrome have congenital heart disease and associated early onset of pulmonary hypertension (high blood pressure in the lungs).

(SCT) in clinical practice for 70+ years.Stem cell transplantation (SCT), known on the Web also as stem cell therapy, has been used successfully for 75+ years as treatment of many diseases for which modern medicine has had no therapy, or in which \'state-of-art\' therapies stopped being effective, Down syndrome has been a shining example.


Schmid published data about his personal treatment of over 3, 000 children with Down syndrome, as a result of which 25% of such children were able to attend regular schools.The damaged brain tisssue is replaced after healing by connective tissue, i.Beyond certain age any such treatment was nearly useless: for example, to start stem cell transplantation for a child with Down syndrome beyond the age of 4 years was found to be of minor to minimal therapeutic benefit.

Down Syndrome, Genetic and Other Serious Diseases of Childhood\', such as Autism, Can Be Treated by Stem Cell Transplantation Down syndrome, genetic diseases in childhood, and various untreatable serious diseases of early age due to various prenatal and postnatal causes, birth injuries, mental retardation, failure to thrive, etc.

In all such cases stem cell transplantation has been carried out at an early age, immediately after the diagnosis was established, or even in utero.The earlier in life stem cell transplantation was carried out, the better was the outcome, because ”stem cell transplantation cannot repair scar tissue”.

The use of stem cell transplantation as a treatment of chromosomal and genetic diseases, and of birth injuries, can be studied in a textbook of E. Michael Molnar, M.D. "Stem Cell Transplantation, a Textbook of Stem Cell Xeno-Transplantation", published by Medical And Engineering Publishers, Inc., Washington, D.C., in February 2006, the first textbook for medical profession and students in the world about this subject. Click on www.mepublishers.com

Ultrasound Down Syndrome with Early Detection

What is Ultrasound?
Ultrasound technology allows medical professionals to look inside a patient without resorting to surgery. A transmitter is used to send high frequency sound waves in the body; the waves bounce off the different tissues and organs and hence produce a unique pattern of echoes. A receiver attached, hears the returning echo pattern and it sends it to a computer translating the data into an image on a television screen. Ultrasound can differentiate subtle variations between soft and fluid-filled tissues and is very useful in providing diagnostic images of the abdomen.

Ultrazvuk abdomena is non-ionizing radiation hence it has no known negative effects. It is often used in conjunction with other imaging techniques. Ultrasound, x-ray, and magnetic resonance imaging (MRI) takes body images using diverse technologies and every technique is quite helpful in determining mass properties resulting in more complete diagnosis.

Ultrasounds and detecting Down Syndrome
Ultrasound tests can be done in the first trimester to check for early signs of Down's Syndrome, such as thicker than normal neck skin. You have an ultrasound scan and the radiographer or doctor measures the amount of fluid beneath the skin behind the baby's neck. This measurement can indicate the possibility of the baby having Down's syndrome.

In the early second trimester, an ultrasound test may be able to show another potentially problematic sign, the lack of a normal nasal bone.

Ultrasound is not a definitive test for a number of reasons. The mother will be moving slightly during the test, no matter how hard she tries to be still. Her breathing moves her uterus, if nothing else. In addition, of course, babies move around like mad as any pregnant lady who's tried to sleep through a kicking child can attest. Because ultrasound testing involves bouncing sound waves in order to get a clear picture, movement can give false results either way.

The combination of ultrasound and maternal blood testing increases the odds of early detection to 90% with only 5% erroneous positive results. False positives are maddening, stressful errors in the testing process, and can lead new parents to believe they have a child with Down's Syndrome when, in fact, they don't.

While testing procedures have improved greatly, keep this small chance in mind when looking at test results.

Use of ultrasound and maternal blood testing can help avoid the necessity of the more definitive tests. However, if screening up to this point has indicated a strong possibility of Down's Syndrome in your baby, you may want to go ahead and have the more definitive tests done to get a real, concrete answer.

A high resolution ultrasound scan which is an extremely detailed scan using a very expensive scanner could pick up spina bifida in a baby. In this case, ultrasound becomes a diagnostic test rather than a screening test.

Why need Pre-Natal Pregnant Test by using UltraSound?
An ultrasound is one of the most common prenatal tests, and it is usually performed at least once during the pregnancy. During the ultrasound the doctor will be able to look at your baby's development and check for any health problems or abnormalities. The sex of the baby can also be determined using ultrasound procedures.

Women who are over the age of 35 or who have genetic disorders in their family usually receive amniocentesis as part of their prenatal test routine. During this test, a small amount of the amniotic fluid is collected and analyzed. Any genetic abnormalities or diseases in the baby can be diagnosed through this prenatal test. If there is not enough amniotic fluid present to be collected safely for amniocentesis, or the woman wants test results very early in the pregnancy, than chorionic villus sampling can be used; during this test fetal blood is collected from the umbilical cord. Chorionic villus sampling can also detect addition problems in the fetus such as low oxygen levels or anemia.

Trained sonographers in a medical setting may be able to determine if a fetus is more likely to be born with Down syndrome by observing the thickness or folds of the neck. This is called nuchal translucency thickness.

Some hospitals are beginning to offer “Sequential Screening,” a two-stage test in the first trimester designed to test for Down syndrome, trisomy 18 and other chromosome disorders as well as neural tube defects such as spina bifida without the risk and invasiveness of amniocentesis or chorionic villus sampling (CVS). Participating hospitals may recommend this diagnostic ultrasound to pregnant women over age 35, or to any woman who would like to have the tests. A blood test for hormone levels in the 10th to 14th week is followed up by an ultrasound in which the amount of fluid at the back of the fetus’ neck is observed. The results of the two tests combined reveal “odds” that the fetus is affected with one of the conditions being tested for. A second blood test may be advised between the 15th and 22nd week, at which point the combined results are considered 90-percent accurate in detecting Down syndrome or trisomy 18.

What Would You Do If Your Doctor Said Your Fetus Had a 1 in 6 Chance of Being Born With Down Syndrome?
Since 1983, when doctors noticed that alpha-fetoprotein was usually low in the blood of women who carried a fetus affected with Down syndrome, the search has been on for a test, or combination of tests, that would diagnose the syndrome early in a pregnancy. Women and their partners use this testing so that they can prepare to raise a child who will have profound medical, cognitive, and behavioral challenges, or so that they can end the pregnancy. The best tests now detect up to 95 percent of Down syndrome by combining results from blood tests in the first and second trimesters with an ultrasound examination in the first trimester, and obstetricians across the developed world are screening more of their patients than ever before. None of these tests, however, provide a definitive yes or no answer -- although blood tests that do are in development and may be available as soon as June.

In much of Europe, this increase in screening has coincided with a decrease in the number of babies born with Down syndrome, because many women, armed with this new information, have chosen to terminate these pregnancies. However, many US women -- including Alaska Governor Sarah Palin, whose son with Down syndrome, Trig, was a constant presence on last year's campaign trail -- are finding out their fetuses have the syndrome and are continuing with the pregnancy

At their best, obstetricians provide their patients with information and counseling that empower them to make the right decision -- about testing, and about what to do with the results of these tests. As an obstetrician specializing in complex pregnancies, including those affected by Down syndrome, and try to be informative, supportive, and non-directive, but you can recognize that the options are confusing and the decisions momentous.

What Causes Down Syndrome?

Down's affection is authentic as a ache that comes about because of a abiogenetic aberancy that abnormally affects the brainy capabilities and concrete appearance of an afflicted person. Individuals with this action absolutely generally acquaintance capricious degrees of medical and concrete issues. Some bodies with the ache are able to auspiciously advance moderately approved lives while others charge assiduous medical care. It affects 1 in 800 newborns and is said to be added accepted with earlier mothers. The ache cannot be prevented, about it can be apparent in utero, afore the babyish is born. There is still abundant altercation in affiliation to the ramifications of abiogenetic testing for Down'ssyndrome. It has been empiric that an estimated 90-93% of pregnancies with a Down's babies were aborted already this was articular through assorted forms of abiogenetic testing methods.

The angle for accouchement with Down's affection has decidedly bigger in contempo years. The approved activity amount for an alone with Down's affection was 25 years old in the 1980's it has now risen to 49 years of age in present times. Bodies with the ache will usually be barren abnormally males who are alone partially abundant in acutely attenuate instances. Most accouchement with Down's affection will additionally acquaintance acutely bargain cerebral abilities. However, with bare medical intervention, ancestors abutment and abstruse training the adolescent with bottomward affection can apprentice 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:

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

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

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

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

• 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.

Doctors found that what causes Down syndrome environmentally may be the parents' age. For example, a 25-year-old mother has a 1/3,000 chance of having a baby with Down syndrome. By age 35, her risk will have increased to 1/365 and by 45, it will be a 1/30 chance of having a baby with the genetic condition! The latest Down syndrome research suggests that older fathers are now responsible for the 50% rise in risk, when the mother is also over 40.

Even though the odds get worse as the parents age, 80% of these babies are born to women who are 35 or younger. However, that statistic can also be explained because younger women are having many more babies. Younger mothers who smoke and have a meiotic II error or who smoke and take oral contraceptives are at increased risk for having a Down child as well.

During pregnancy, there are several screening tests to examine what causes Down syndrome. Some people get blood tests like the quad screen, which reveals chromosomal disorders between the eleventh and fourteenth weeks of pregnancy. Doctors look for plasma protein-A and the human chorionic gonadotropin hormone.

This test is about 87% effective in making a Down syndrome diagnosis. Ultrasound is another method to check for abnormalities. While these tests may give parents peace of mind, they may also set off a false alarm. Even though 1/20 women test positive, most will go on to deliver healthy babies anyway.

Free Screening To Detect Down's Syndrome

A NEW way of screening for Down’s syndrome in pregnant women has been introduced at Crewe's Leighton Hospital.

It is one of the first hospitals in the North West to offer combined Nuchal Translucency (NT) screening free of charge for NHS patients.

The test is a well established means of improving the detection rate of Down’s-affected pregnancies within the first few months of pregnancy.

It involves having an ultrasound scan and blood test between 11 and 14 weeks of pregnancy.

Simon Cunningham, consultant obstetrician at Leighton, said: “The combined NT test allows for earlier detection of Down’s.

"Women who are found to have a high risk result can be offered further diagnostic testing such as chorionic villus biopsy which is available from 11 weeks or amniocentesis which is available from 15 weeks.

"Both techniques are available in the Women’s Health Unit at Leighton Hospital.

“The combined method of testing is a more accurate form of screening than the traditional quadruple test – research shows the new screening has an 86% detection rate compared to the 78% detection rate for the traditional test.

"The main benefits of the combined NT test are that it is more specific and that it allows diagnosis and investigation of Down’s syndrome earlier in the pregnancy.”

All pregnant women who book to deliver at Leighton Hospital are offered a free combined NT screen between 11-14 weeks of pregnancy.

Mr Cunningham continues: “During the appointment, biometric details are taken to increase the accuracy of the test.

"The necessary blood samples are taken and then the thickness of the Nuchal space at the back to the fetal neck is measured.

"Babies with abnormalities tend to accumulate more fluid at the back of their neck during the first trimester, causing this clear space to be larger than average.

“Results are normally available within three to four working days and women with a high-risk result are contacted by a member of our fetal medicine screening midwifery team and offered an appointment to be counselled about their options.”

Folic acid and vitamin B12 for pregnant women may avoiding down syndrome

Folic acid (also known as vitamin B9 or folacin) and folate (the naturally occurring form), as well as pteroyl-L-glutamic acid and pteroyl-L-glutamate, are forms of the water-soluble vitamin B9. Folic acid is itself not biologically active, but its biological importance is due to tetrahydrofolate and other derivatives after its conversion to dihydrofolic acid in the liver.

Vitamin B9 (folic acid and folate inclusive) is essential to numerous bodily functions ranging from nucleotide biosynthesis to the remethylation of homocysteine. The human body needs folate to synthesize DNA, repair DNA, and methylate DNA as well as to act as a cofactor in biological reactions involving folate. It is especially important during periods of rapid cell division and growth. Both children and adults require folic acid to produce healthy red blood cells and prevent anemia. Folate and folic acid derive their names from the Latin word folium (which means "leaf"). Leafy vegetables are a principal source, although in Western diets fortified cereals and bread may be a larger dietary source.


Studies conducted by the University of Maryland Medical Center show that folic acid deficiency is the biggest problem for those lacking in vitamin B. If you are lacking in folic acid it can cause you to experience stunted growth, mental sluggishness and breathing difficulties to name a few.

A deficiency in folic acid also showed signs of causing growth problems, swelling of the tongue, gum disease, poor appetite, gastroenteritis, moodiness, forgetfulness, foggy brain and shortness of breath. The University of Maryland Medical Centre claims to have conducted extensive research to support these beliefs.

When a woman is pregnant, the growing baby needs to take a lot of folic acid from her own supply. It is quiet common for pregnant women to develop a folic acid deficiency, and in serious cases can result in spinal bifida or brain damage for the child.

Diseases everyone has heard of such as Alzheimer's, coronary disease, Down's syndrome and osteoporosis are all connected to folic acid deficiency. This is because it can result in razing homocysteine (an amino acid) levels, which can be avoided by taking a vitamin b12 supplement

If you want to avoid problems developing from a folic acid deficiency, you need to have a good look at your diet and consider a good vitamin B supplement. Vegetables like asparagus, beetroot, beef liver, whole grains, root vegetables and soy beans are high in folic acid. When you choose your vitamin B supplement find one that offers the full range of B's so you cover all your bases.

Of all the B vitamins, folic acid is the one people are mostly lacking. Taking a vitamin B supplement can help you avoid problems with appetite, growth, breathing and learning to name a few. Folic acid is detrimental during pregnancy to avoid the baby being born with problems like spinal bifida or Down syndrome. When you purchase a vitamin B product, make sure it is a complete complex that has all the types of b vitamins.


Article Source: http://EzineArticles.com/?expert=Rich_Fuller

Tips on How to Prevent Down Syndrome

Since Down syndrome is a genetic disorder, there is truly no definite preventive measure that can fully stop it from happening. However, the randomness of the occurrence can lead to the development of preventive measures that can alleviate the occurrence. Knowing the risks can also aid parents get ready for the possibility. Here are some more details.

About the Risks

The most common known risk of Down syndrome may be increasing occurrence with increasing maternal age. Although the happening is random in nature, the possibility actually increases as mothers grow older. Mothers below 25 years old has a 1 in every 1,400 births chance of producing a Down syndrome baby. At 30 years old, the figures continue to increase until the age of 45 years and above, when the chances are almost 1 in every 12 births.

The condition of the mother can also matter. Inadequate supply of folic acid, which is a B vitamin may be linked to the occurrence of Down syndrome. Mothers who have inherently low folate levels have a higher risk of having a baby with Down syndrome compared to others. The chances increase by 320%. To prevent the problem, mothers are advised to take folic acid supplements and practice screening techniques and diagnostic tests if they get pregnant at age 35 or later.

Avoiding Pregnancy

The most common way to prevent Down syndrome for parents may be to avoid pregnancy altogether once they reach the age of 35. However, for some parents, doctors recommend a family planning approach that can help indicate the possibility of occurrence. The Down syndrome birth prevalence in any given country may be estimated via the proportion of maternities during every age. Maternal and paternal ages should be considered very well to determine if there are chances of producing babies with Down syndrome.

Early Diagnosis

Parents should make it a point to undergo screening and diagnostic tests to stay ahead before other complications can arise. They can start methods at 11 to 12 weeks of pregnancy and continue up to the third trimester. Some of the known methods include ultrasound, expanded AFP screening, chorionic villus sampling, amniocentesis and nuchal translucency screening.

Women having a history of inherited translocation or having a previous pregnancy with a form of Down syndrome that is non-inherited should gain access to PGD. The technique is limited depending on the presence of normal embryos in families. Only around 1% of Down syndrome pregnancies involve women with a family history of the disorder. Biochemical, epidemiological and molecular evidence shows a link between the condition and defect in methyl and folate metabolism.

Healthier Lifestyle

Just the same as preventing any other disease, individuals should practice living healthier lives by exercising regularly, eating healthily and getting more of the nutritious vitamins and minerals. They should get enough rest per night and relieve stress by taking antioxidants and improving their social lives.

Family planning should be done even before marriage, especially for couples who are carriers of translocation, whether it is the male or female parent. Parents may try to complete their family before the age of 30. The birth prevalence can be cut by as much as 50% with the strategy. Further research and constant studies can help provide more information so keep updated through the internet, books and experts.

What, How its Happen and Type of Down Syndrome

What is Down syndrome?

Down syndrome is caused by a person having three copies of chromosome 21 instead of two copies. This is why Down syndrome is also referred to by the name Trisomy 21. The picture above shows a genetic analysis of a person with Down syndrome. You will notice that the arrow is pointing to the set of number 21 chromosomes. Instead of a pair of chromosomes, as is found in all the other chromosomes, number 21 includes three chromosomes. It is important to understand that all of the chromosomes of this person are normal. It is the fact that there is an extra chromosome that causes Down syndrome. Every cell in a person with Down syndrome will contain 47 chromosomes (with the exception of Mosaic Down syndrome which is discussed below) instead of 46 chromosomes. There are many theories about how the extra chromosome causes the effects of Down syndrome but little is currently known. Research, however, is continuing and a breakthrough may provide possible treatments to lessen the effects.

How does this happen?

During cell division to create a germ cell (either sperm or egg), a cell containing 46 chromosomes divides into two germ cells each containing 23 chromosomes. Sometimes this division does not happen properly and one cell may contain 22 chromosomes and the other may contain 24 chromosomes. This can happen if the chromosomes do not properly separate and instead "stick together." This is called nondisjunction because the chromosomes have failed to disjoin or split-up. 75% of the time it is the egg cell which carries the additional chromosomal material, 25% of the time it is the sperm cell. If the cell containing 24 chromosomes combines with a cell containing 23 chromosomes, the new cell will contain 47 chromosomes instead of 46. If the trisomy is chromosome 21, the person will have Down syndrome. 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. These conditions are rarer than Down syndrome and have their own characteristics which are different than Down syndrome.

Are there different types of Down syndrome?

There are three different types of Down syndrome: Standard Trisomy 21, Translocation, and Mosaicism.

Standard Trisomy 21 is when the extra chromosome 21 comes from either the egg or sperm cell. Between 90% and 95% of all Down syndrome is Standard Trisomy 21.

Translocation is caused when a piece of chromosome 21 is located on another chromosome such as chromosome 14. The person with Translocation Trisomy 21 will have 46 chromosomes but will have the genetic material of 47 chromosomes. The person with Translocation Trisomy 21 will exhibit all the same characteristics of a person with Standard Trisomy 21 since they have three copies of chromosome 21. Translocation occurs between 3% and 5% of cases of Down syndrome.

Mosaicism is when a person has a mix of cells, some containing 46 chromosomes and some containing 47 chromosomes. This occurs either because: a) The person received 46 chromosomes at fertilization but somewhere during early cell division the chromosome 21 cell pairs failed to split creating a cell with 47 chromosomes and a cell with 45 chromosomes. The cell with 45 chromosomes can not survive but the cell with 47 chromosomes will continue to divide. All cells that come from this cell will contain 47 chromosomes. b) The person received 47 chromosomes at fertilization but later during cell division the extra chromosome is lost. Mosaicism occurs in 2% to 5% of cases of Down syndrome. A person with Mosaic Down syndrome may exhibit all, some, or none of the characteristics of Down syndrome depending on the percent of cells carrying the extra chromosome and where these cells are located.

Understanding Down Syndrome - Children With An Extra Copy Of Chromosome 21

It is believed that around 5 000 of the babies born in the USA each year, have Down syndrome. The syndrome is named after Dr John Langdon Down who identified the syndrome in 1866. It is caused by an extra copy of chromosome 21 in all the cells of the body.

The reason why it happens is unknown and it can occur in any family. There is no proof that is affects a specific race or sex more than the others. Mothers over 40 have a greater chance of having a Down syndrome baby than younger mothers. Having one baby with Down syndrome doesn’t mean it will affect all babies born after that, but the risk becomes higher.

Down syndrome children have specific physical features such as a round face and small chin. Many also have vision problems and tend to wear glasses. Growth is normally slowed down and they seldom grow very tall. Almond shaped eyes and an oversized tongue are other typical features. Because of the oversized tongues, speech can sometimes be difficult.

Their cognitive abilities are usually lower than those of other children and a small number are severely mentally disabled. Down syndrome children are more prone to heart diseases, ear infections and thyroid problems than other children. Treating this at a young age is necessary to prevent further illnesses later in their lives.

Caring for a child with Down syndrome has its own challenges but parents of these children often report the special bond that they have with their children and wouldn’t want it any other way. These children are loving and caring by nature. Unless there are other mental problems, they usually enjoy the company of people and should be exposed to that.

Down syndrome children will benefit from early childhood therapy such as speech and physical therapy. Life expectancy for people with Down syndrome, for many years, was around twenty to twenty five years. That has changed now and Down syndrome babies can, on average, have a life expectancy of fifty to sixty years.

These children can normally attend mainstream schools where extra assistance is available. They learn slower than other children, but many are educated enough to be able to have a regular job and a few even attend college.

Down syndrome children might have different and more challenges than many other children but with the appropriate care and love, can have full and happy lives.

By: Jared W

Pregnancy Over The Age Of 40 Risks

There are many reasons why being pregnant over the age of 40 are terrific. Statistics bear out that "mature" mothers raise children who are more likely to do well in school and lead successful, professional lives. Not to say that younger mothers can't do this but the statistics show that a higher proportion of older mother raises children who go on to be "successful" adults. This is a great benefit to those older mothers who wishes to raise a child.

Of course there are risks with conceiving at this age. One of the primary concerns your doctor will have is chromosomal problems that lead to Down syndrome. Studies indicate that your pregnancy has a 1 in 42 chance of having a baby with Down syndrome compared to the 1 in 1562 when you were in your 20s. Due to the health issues surrounding the pregnancy, your doctor will offer extra testing to determine chromosome problems your fetus may have which would be amniocentesis. Now, with this test, there is a 1 in 200 chance of losing your baby. This test is completely optional so you will have to determine the risks and benefits of this test.

Other risks that you are more prone to since you are over 40 depend on your overall health. Some studies have shown that women of a more advanced age see an increased risk of growth problems, preterm labor, preeclampsia, high blood pressure, and diabetes. You should not be too worried as your age alone does not automatically mean you or your baby will experience any of these problems but they are real risks that you will want to keep in mind. If you are in overall good health, studies have shown that your risks will not be too great when compared to a younger woman.

Try not to worry about what could go wrong too much. Though some of the risks do seem frightening, you should enjoy your pregnancy and the thought of your future baby as, again, you will be more likely to provide a stable, nurturing environment that your child needs to thrive.

By: Peter Yoo

Down Syndrome and Mental Retardation

Most people with Down syndrome have IQs that fall in the mild to moderate range of mental retardation. Some are so mildly affected that they live independently and are gainfully employed.

Language development is often delayed or impaired in people with Down syndrome; they understand more than they can verbalize. Also, ordinary activities of daily living and understanding the behavior of others, as well as their own, can present challenges.

Researchers at the School of Medicine and Lucile Packard Children's Hospital have identified one possible cause of mental retardation in Down syndrome. The culprit is a gene that, when overexpressed, causes neurons responsible for attention and memory to shrivel and stop functioning normally. The finding offers the first glimmer of hope that doctors could one day interfere with or even reverse the cognitive decline that frequently affects those with Down syndrome in middle age.

"We may now have the opportunity to make a big difference in people's lives," said neurologist William Mobley, MD, PhD. "If we can decrease the expression of this gene, we may be able to provide something more than supportive care to people with Down syndrome."

Mobley, who is the John E. Cahill Family Professor and director of the hospital's Down Syndrome Center, is the senior author of the research, published in the July 6 issue of Neuron. He is also the director of Stanford's Neuroscience Institute.

More than 300,000 people nationwide have Down syndrome, which is caused by an extra copy of chromosome 21, giving them a total of three. Although it is the leading cause of mental retardation in the country, little research has been conducted at the molecular or neurological level to understand and explore potential therapies for its symptoms. In addition to dealing with early cognitive difficulties, childhood heart disease and leukemia, most people with Down syndrome develop Alzheimer's disease by the age of 40.

"Down syndrome results in an extraordinarily complex constellation of symptoms," said lead author and senior research scientist Ahmad Salehi, MD, PhD. "We've done what many people thought was impossible: We've dissected it genetically to correlate one of the most troubling symptoms—cognitive dysfunction—with one particular gene. While it's not the only gene involved, its presence in three copies makes a significant difference."

Although mutations in the gene, called App for amyloid precursor protein, can cause early-onset Alzheimer's disease in otherwise healthy people, this is the first time it has been linked directly to degeneration of a specific group of neurons in the brains of those with Down syndrome. The breakthrough confirms an idea suggested by previous research: Neuronal degradation in people with Down syndrome is the result of an interrupted conversation between nerve cells in a specific part of the brain.

Like a classroom troublemaker, a signaling neuron needs feedback to thrive. It lobs specialized compounds called neurotransmitters toward its neighbor and awaits a response to its molecular spit wads. The target cell fires back such molecules as nerve growth factor, or NGF. The NGF is engulfed by the membrane of the instigator cell and is shuttled to the cell body in a process called retrograde transport. Once there it acts on the nucleus to stimulate the expression of genes that support neuronal growth. Interrupting this intercellular tit-for-tat causes the neuron to wither away.

Salehi, Mobley and their colleagues used a mouse model of Down syndrome to follow NGF's journey from the membrane to the cell body of the signaling cell. They focused on a mouse in which only about 140 genes—including App—were present in three copies. They found that although NGF retrograde transport was severely compromised in this mouse, it was markedly increased when the third copy of App was deleted. The neurons in the brain of the mouse with two copies of App were also larger than those in the mouse with three copies. "Clearly, App influences the transport of NGF in Down syndrome," said Mobley, "and we're very suspicious that it may do something similar in Alzheimer's disease. We're now investigating ways in which we might be able to turn down App expression."

Added Salehi, "It's not even necessary to turn it off completely. All we need to do is to reduce it by one-third: From 150 percent of normal back down to 100 percent."

Although it's not clear exactly how App interferes with NGF transport, a clue can be found in the intracellular compartments called endosomes that shuttle NGF to the nucleus. Mouse cells with three copies of App have endosomes that are abnormally large, perhaps making them too unwieldy to transport NGF. A similar ballooning of neuronal endosomes has been noted in people with Down syndrome and Alzheimer's disease.

The findings are tantalizing, yet many steps remain to an effective therapy for these devastating disorders, the researchers cautioned. The fact that deleting the third copy of App didn't restore the mouse to normal indicates that other genes must also affect the timing or severity of the neuronal degeneration. But Mobley and Salehi have already embarked on an ambitious plan.

"First we need to figure out at a molecular level how App works in Down syndrome," said Mobley. "Then we need to examine other genes that might be involved and test possible compounds in mouse and human cells. If we are able to do all that, we might begin to think of helping children and adults with Down syndrome to develop and age more normally."

Stem Cell Treatments to Improve symptoms in Down Syndrome

The clinical characteristics of Down syndrome, caused by the triplication of the fragment 21q22 of chromosome 21 (trisomy 21) include mental retardation, craniofacial abnormalities, clinical defects of the heart, gut and immune system, and an increased risk of other diseases, including leukemia and Alzheimer's disease. Down syndrome is further complicated by the accumulation of toxic amyloid beta deposits in the brain and perhaps blood vessels.

A comprehensive medical program that includes
1) Eliminating infections
2) Eliminating metal toxicity
3) Providing mitochondrial support (to produce ATP energy for the cell)
4) Providing antioxidants (to reduce amyloid beta and for neuroprotection)
5) Providing growth factors for neuroprotection and neurogenesis
6) Providing umbilical cord stem cells (especially cells transfected with needed genes)

Holds promise for reducing some of the symptoms of Down syndrome. This is a new frontier for human umbilical cord stem cells and one that is very exciting. We are optimistic because some of the children with cerebral palsy have responded to cord stem cells with cognitive improvements, including improvements in comprehension, logic, increased vocabulary, learning and memory.

How to Treat Down Syndrome With Speech Therapy

Step 1:
Start early. Even before a child starts to speak, speech therapy can help her communicate through gestures, physical contact and facial expressions. This is especially important in children who start speaking late, as they will still be able to get their points across.

Step 2:
Concentrate on teaching Down syndrome children how to breathe properly. A big part of the speech problem with Down syndrome children is in the fact that they cannot find a proper way to places pauses in sentences, causing words to come out either too rushed or too slowly.

Step 3:
Talk to a therapist if you notice your child has problems swallowing. This is also directly related to the way he uses his throat and may have an impact on his reactions, his speech and the way he communicates.

Step 4:
Focus on developing vocabulary and focus on words that are easy to pronounce and don't have double meanings that may confuse the child. At an early age, a speech therapist may opt for concentrating on short sentences with simple grammatical structures and then move on to more common speech patterns as the child's abilities develop.

Step 5:
Treat hearing disabilities if they are present. Being unable to hear well is one of the reasons children with Down syndrome cannot communicate properly. By speaking slowly and clearly and by enunciating each word in a sentence, parents can help children progress faster towards appropriate speech.

Tips & Warnings

* You can further the help of speech therapy right at home through the use of educational toys that focus on speech and vocabulary.
* Children who have Down syndrome and grow up in bilingual homes may have an even harder time grasping the basics of the language. Parents should stick to one language or find a therapist who specializes in bilingual children.
* Practice speaking with your child about different topics to encourage eloquence and courage.
* Resist the urge to complete your child's sentences. Let him work out the expressions by himself, even if it takes him longer to get his thoughts across.

How is Down syndrome diagnosed?

Your doctor may suggest that you have tests during pregnancy to find out if your baby has Down syndrome. A screening test can help show if the baby (fetus) is at risk for Down syndrome. But these tests sometimes give false-positive results, meaning they show a problem when there is none.

Screening tests include:

* A blood test and a fetal ultrasound late in the first trimester. The ultrasound looks for thickness in the back of the baby’s neck (nuchal fold), which can be a sign of Down syndrome. This kind of ultrasound is not available in many areas.
* A blood test called a maternal serum triple screen or quadruple screen in the second trimester. By measuring substances in your blood, these tests can estimate the chance that your baby has Down syndrome or other health problems.

Your doctor may suggest a chromosome (karyotype) test if you have an abnormal screening test result or if you are worried about Down syndrome. A karyotype test has more risks than a screening test, but it can say for sure if your baby has Down syndrome.

Karyotype tests include:

* Chorionic villus sampling in the first trimester. For this test, the doctor takes a sample of cells from the placenta, either by putting a thin tube through your vagina or by putting a thin needle into your belly.
* Amniocentesis in the second trimester. For this test, the doctor puts a thin needle into your belly and takes a sample of the liquid (amniotic fluid) that surrounds the baby.

Sometimes a baby is only diagnosed after birth. A doctor may have a good idea that a baby has Down syndrome based on the way the baby looks and the results of a physical exam. To make sure, the baby’s blood will be tested. It may take 2 to 3 weeks to get the complete test results.

What causes Down syndrome?

Down syndrome is caused by problem with a baby’s chromosomes that happens long before the baby is born. Chromosomes are the part of your cells that contain your genetic material, or DNA. Normally, a baby has 46 chromosomes. But most people with Down syndrome have 47 chromosomes. In rare cases, other chromosome problems cause Down syndrome. Having extra or abnormal chromosomes changes the way the brain and body develop.

Experts don't really know what causes the chromosome problem. But some things are known to increase the chance that a baby will have Down syndrome. These things are called risk factors. They include having a:

* Mother who is over 35. The older the mother is, the higher her baby’s risk of Down syndrome. (But most babies with Down syndrome are born to mothers younger than 35, because younger women as a group have more babies than older women do.)
* Father who is over 40.
* Brother or sister with Down syndrome.