Down syndrome is one of about twelve identified chromosomal disorders- some of which are caused by additional chromosome, in whole or in part. With Down syndrome, that extra chromosome is added to the 21st chromosome during fetal development. Down syndrome is also known as Trisomy 21.
Chromosomes are strands that contain DNA and protein which are necessary for cell division and genetic diversity.
The syndrome was given recognition by Dr. John Down in 1866. The cause of why Down syndrome occurs was not discovered until the 1950s.
In the United States, there are about a half a million citizens with Down syndrome. About one out of over seven hundred births will be a neonate born with Down syndrome. There is a correlation between older mothers and their chance of having a baby with Down syndrome.
Not long ago, this figure was around one out of every one thousand births. This does not mean that there are more situations with Down syndrome than in the past.
It is suspected that fewer women are deciding to have an abortion if they discover their unborn child has Down syndrome. Yet about 80 percent of Down syndrome developments die before being born without intervention.
With Down syndrome, the extra chromosome leads to an over-production of certain proteins in the human body. This over-production causes a variety of systemic effects with one who has this syndrome. Less than half of Down syndrome people are at an increased risk for congenital heart defects and disease, which decreased their lifespan somewhat.
Most Down syndrome people will develop hypothyroidism, which is very treatable, and are at an increased risk for developing Leukemia. Also, the Down syndrome person is at an increased risk for GERD and Alzheimer’s disease, as well as sleep disorders and decreased fertility ability. With Down syndrome, the skull lacks symmetry, and microencephaly is present as well.
Yet the mental disabilities are mild to moderate with most Down syndrome people. Also, their body type is a unique mesomorph structure, with some limitations on their morphology and their range of motion.
The behavior of one with Down syndrome includes them usually being rather placid, along with rare bouts of crying episodes.
Down syndrome people also have unique facial features, all of which is due to their extra chromosome. Yet some with Down syndrome are more or less within normal limits regarding their potential traits associated with their syndrome.
The one with Down syndrome will likely need to wear glasses to correct vision impairment, which is not much different than many humans. About a third of Down syndrome patients will need bifocals eventually.
Overall, the one with Down syndrome has a life expectancy approaching 60 years of age or longer.
Over a hundred years ago, most suspected of having Down syndrome were institutionalized and experienced forced sterility. They usually died young from malnutrition and lack of medical care. This was due to those with Down syndrome being labeled as ones with Mongolian idocy, which means that others thought of them as ethnic idiots.
In fact, Mongolism has existed in medical textbooks until at least the late 1970s.
One book that referred to Down syndrome people as Mongolism was The Encyclopedia of Common Diseases written by the fine staff at Prevention Magazine, and the book was published by Roledale press in 1976. They exaggerated the signs and symptoms of Down syndrome- stating that their basic structure and functionality remains extremely limited from the time of birth, which is certainly not true.
Presently, there are disagreements by many that exist regarding Down syndrome, prenatal genetic screenings for such disorders, and the consequences that may follow. Some believe the testing in this manner suggests eugenic thinking by others. Presently, about 3 million screenings of this nature are performed every year.
The 17th edition of the Merck Manual offers some recommendations regarding prenatal screening: First, inheritance patterns should be better understood as much as possible. Also, such genetic screenings should be performed only if effective therapy is currently available. The manual suggests that others define the risks of positive results from genetic screenings in order to make plans accordingly.
Laws exist that require doctors to provide information and support contacts of services related to one who may be carrying an unborn child with Down syndrome. Overall, doctors are not prepared to explain the diagnosis of Down syndrome thoroughly.
Also, doctors have been known to embellish the negative aspects of this syndrome, and others have encouraged women who are carrying a Down syndrome fetus to terminate their pregnancies. Possibly about 20 to 30 percent of doctors suggest abortion to those who screen positive for Down syndrome. Most women take their doctor’s suggestion when this occurs.
Yet only about half of all pregnant women choose to be tested and screened for Down syndrome. Among other reasons, present testing methods pose a risk to the unborn child due to the invasive procedures performed to rule out Down syndrome.
However, newer diagnostic genetic screening techniques are becoming available that are not invasive, and this concerns many. The newer screening techniques can detect Down syndrome earlier in the first trimester, and potentially may encourage women to abort the fetus if they learn that it has Down syndrome.
The makers of these new screening devices have things to say on the topic of genetic screening. One company says that their genetic screening device allows one to ‘eliminate unresolved results’. Another company says their screening method allows for better preparation for potential 'problems' with their infants. Problems? I’d choose a different word.
One more company states regarding their testing device that it offers women (not couples) the reassurance, certainty, and accuracy that they ‘need’ to make better, more informed decisions. Any decision made regarding a positive test result is not limited to objective criteria. And the FDA does not regulate genetic testing and screenings.
The educating of doctors in particular, as well as future parents of Down syndrome will prove to be ultimately beneficial for the Down syndrome person that will soon exist. The teaching of skills to parents of one with Down syndrome allows for better coping methods with their child’s limitations. Literary intervention with specific approaches related to the syndrome will improve teaching methods, and will allow others to learn more about how one with Down syndrome acquires knowledge and abilities.
Because, overall, Down syndrome people have the ability to lead relatively normal and healthy lives.
www.ndsccenter.org
www.dowsed.org
Dan Abshear
Showing posts with label Genetic Disorder. Show all posts
Showing posts with label Genetic Disorder. Show all posts
Sunday, March 1, 2009
Thursday, February 26, 2009
Sickle Cell Anemia: A Rare And Deadly Form Of Blood Loss
Sickle Cell Anemia: A Rare And Deadly Form Of Blood Loss
Sickle Cell Anemia (SCA) is an autosomal recessive genetic disorder, which means that one is born missing a chromosome, which is what shares DNA with another).
And SCA causes chronic hemolytic anemia, which unlike anemia itself, actually destroys the red blood cells within a SCA patient, and not simply is depleted of such cells as is the case with anemia in general.
SCA affects almost entirely the black population for reasons unclear as far as the race goes, but the disease is in fact due to a mutated gene assigned to regulate hemoglobin within red blood cells.
The red blood cells (RBCs) take on a rigid and sickle shape in the bloodstream of those affected. SCA was first discovered around 1950, and researched as well afterwards.
SCA typically presents itself in one’s childhood, as this anemia is rather ruthless in the damage it cause various areas of the human body
The average life expectancy of A SCA patient is in the mid 40s presently.
The low life expectancy is due to the multiple clinical consequences that occur due to SCA. The hemolysis that occurs causes excessive destruction of one’s red blood cells.
As a result the spleen of the SCA patient becomes impaired due to the overload of red blood cells in now has to remove from the blood stream of the SCA victim.
And the SCA victim has to rely on his own bone marrow to reproduce additional red blood cells destroyed because of this sequence of events.
Approximately 70 thousand people are with SCA in the United States presently, and all experience this self destruction within them due to SCA.
Symptoms that happen due to SCA include what is called a pain crisis, anemia, infections, spleen inflammation and damage, and infections due to decreased blood flow to various parts of the body.
With SCA children, they are particularly at a high risk for both a stroke and lung disease as a result of this disorder.
Treatment options for SCA include hydroxyurea, which is an anti-metabolite that has the ability to reduce the number of sickle cells present in a SCA patient as well as increases their hemoglobin levels- both of which are needed with the SCA patient.
SCA patients report a deceased number of pain attacks on hdroxyurea as well. Blood transfusions occur at times with SCA patients- perhaps every few weeks. Pain management is needed for the SCA patient often at times.
There is ongoing research regarding sickle cell anemia, and there is hope that better treatment options, if not a cure, will be created sooner rather than later. Because in this certain disease, anemia does not only mean one who is without blood.
This anemia means the SCA victim is also without comfort, and often, without peace.
www.saonline.org
Dan Abshear
Sickle Cell Anemia (SCA) is an autosomal recessive genetic disorder, which means that one is born missing a chromosome, which is what shares DNA with another).
And SCA causes chronic hemolytic anemia, which unlike anemia itself, actually destroys the red blood cells within a SCA patient, and not simply is depleted of such cells as is the case with anemia in general.
SCA affects almost entirely the black population for reasons unclear as far as the race goes, but the disease is in fact due to a mutated gene assigned to regulate hemoglobin within red blood cells.
The red blood cells (RBCs) take on a rigid and sickle shape in the bloodstream of those affected. SCA was first discovered around 1950, and researched as well afterwards.
SCA typically presents itself in one’s childhood, as this anemia is rather ruthless in the damage it cause various areas of the human body
The average life expectancy of A SCA patient is in the mid 40s presently.
The low life expectancy is due to the multiple clinical consequences that occur due to SCA. The hemolysis that occurs causes excessive destruction of one’s red blood cells.
As a result the spleen of the SCA patient becomes impaired due to the overload of red blood cells in now has to remove from the blood stream of the SCA victim.
And the SCA victim has to rely on his own bone marrow to reproduce additional red blood cells destroyed because of this sequence of events.
Approximately 70 thousand people are with SCA in the United States presently, and all experience this self destruction within them due to SCA.
Symptoms that happen due to SCA include what is called a pain crisis, anemia, infections, spleen inflammation and damage, and infections due to decreased blood flow to various parts of the body.
With SCA children, they are particularly at a high risk for both a stroke and lung disease as a result of this disorder.
Treatment options for SCA include hydroxyurea, which is an anti-metabolite that has the ability to reduce the number of sickle cells present in a SCA patient as well as increases their hemoglobin levels- both of which are needed with the SCA patient.
SCA patients report a deceased number of pain attacks on hdroxyurea as well. Blood transfusions occur at times with SCA patients- perhaps every few weeks. Pain management is needed for the SCA patient often at times.
There is ongoing research regarding sickle cell anemia, and there is hope that better treatment options, if not a cure, will be created sooner rather than later. Because in this certain disease, anemia does not only mean one who is without blood.
This anemia means the SCA victim is also without comfort, and often, without peace.
www.saonline.org
Dan Abshear
Wednesday, February 25, 2009
The Lonely Chromosome II: Huntington's Disease
Huntington’s disease is an autosomal dominant- movement, and cerebellar disorder first given its name that was well over a hundred years ago by a physician who had his surname to offer this devastating and degenerative brain disorder.
Huntington’s disease (HD) is progressive once symptoms manifest themselves within the victim- which is remarkably when that victim is middle-aged. Presently, there may be 30 thousand people with HD in the United States.
HD is a genetic disorder, and this single gene mutation attacks the basil ganglia part of the brain, which is at the base of the brain, and is responsible for, among other things, gait, stance, and movement. This is the same part of the brain that is affected by Parkinson’s disease as well.
A depletion of related neurotransmitters occurs as a result, and mental deterioration progresses once the symptoms are present. At times, various affective disorders appear from the victim before the involuntary and jerky movements uncoordinated are affecting the victim. Such movements may be followed by slow and involuntary movements of various body parts.
Since HD is a genetic disorder, if one carries this gene, the person’s offspring has a 50 percent chance of acquiring HD because of the mutant gene on chromosome 4.
Medicinal treatment for symptomatic control and relief is available for the HD patient. In addition, there are promising new treatments and therapies in development for HD.
While researchers strive to find a cure for HD, they continue to make recommendations to help the HD patient. One such recommendation is that for the HD patient manage their sleep symptoms to delay the progression of the disease to a degree. Also, researchers suspect an over-active immune system may contribute to this disease. If that is the case, then HD can be detected much earlier in the HD patient before the patient’s symptoms appear.
Death occurs often about 15 years after symptoms are shown in the HD patient from the deterioration of the patient’s brain, and the results of this atrophy eventually lead to death of the HD patent.
www.huntingtonproject.org
Dan Abshear
Huntington’s disease (HD) is progressive once symptoms manifest themselves within the victim- which is remarkably when that victim is middle-aged. Presently, there may be 30 thousand people with HD in the United States.
HD is a genetic disorder, and this single gene mutation attacks the basil ganglia part of the brain, which is at the base of the brain, and is responsible for, among other things, gait, stance, and movement. This is the same part of the brain that is affected by Parkinson’s disease as well.
A depletion of related neurotransmitters occurs as a result, and mental deterioration progresses once the symptoms are present. At times, various affective disorders appear from the victim before the involuntary and jerky movements uncoordinated are affecting the victim. Such movements may be followed by slow and involuntary movements of various body parts.
Since HD is a genetic disorder, if one carries this gene, the person’s offspring has a 50 percent chance of acquiring HD because of the mutant gene on chromosome 4.
Medicinal treatment for symptomatic control and relief is available for the HD patient. In addition, there are promising new treatments and therapies in development for HD.
While researchers strive to find a cure for HD, they continue to make recommendations to help the HD patient. One such recommendation is that for the HD patient manage their sleep symptoms to delay the progression of the disease to a degree. Also, researchers suspect an over-active immune system may contribute to this disease. If that is the case, then HD can be detected much earlier in the HD patient before the patient’s symptoms appear.
Death occurs often about 15 years after symptoms are shown in the HD patient from the deterioration of the patient’s brain, and the results of this atrophy eventually lead to death of the HD patent.
www.huntingtonproject.org
Dan Abshear
The Lonely Chromosome I: Cystic Fibrosis
An Autosomal Recessive Genetic Disorder: Cystic Fibrosis
Cystic fibrosis (CF) is known as what is called an autosomal recessive genetic disorder. With cystic fibrosis, each of your parents contributed to you what are known as CFTR protein genes that were mutated, meaning the genes are defective, which is why one acquires CF. The disease was first recognized during the 1930s. The name of the disease is derived from the frequent scarring of the pancreas associated with CF. CF has also been called Anderson's Syndrome in the past.
It is the most common hereditary disease in the United States. Also, the disease is almost entirely present in those who are white and of European decent. About 30,000 people in the U.S. have Cystic Fibrosis. Also, and for reasons unknown, men live longer than women with CF.
This is a multi-system disease that can be deadly, and most with CF never lived past 5 years of age until the 1950s. Today, about 40 percent of cystic fibrosis patients are adults. With proper dietary supplements, and antibiotics to treat lung infections, the lifespan of CF patients continues to increase.
Normally, CF is diagnosed when one is an infant- based on such things as low birth weight. Malnutrition is common due to the disease preventing the body from absorbing nutrients, and certain vitamins, such as vitamin D,E,A, or K. About 85 percent OF CF patients are deficient with such vitamins. In addition, genetic screening is now done on all neonates for up to 29 genetic disorders in most states in the U.S.
Aside from the CF patient experiencing often a dysfunctional pancreas, CF also causes lung infections and digestive problems as well. With cystic fibrosis, the glands in your exocrine system, glands that normally produce thin and slippery fluids for your internal organs instead produce thick mucus that essentially clogs your organs, such as your pancreas (mucovisidosis). This thick mucus also contributes to lung dysfunctions and infections as well.
There are pharmaceuticals that have yet to be approved designed to treat cystic fibrosis patients, which appear to be promising for those affected by this disease.
The CF patient may want to consider seeking out those doctors and hospitals who are specialists with cystic fibrosis for evaluative reasons and treatment reviews that will be best for them to address the complications of cystic fibrosis.
www.cff.org
Dan Abshear
Cystic fibrosis (CF) is known as what is called an autosomal recessive genetic disorder. With cystic fibrosis, each of your parents contributed to you what are known as CFTR protein genes that were mutated, meaning the genes are defective, which is why one acquires CF. The disease was first recognized during the 1930s. The name of the disease is derived from the frequent scarring of the pancreas associated with CF. CF has also been called Anderson's Syndrome in the past.
It is the most common hereditary disease in the United States. Also, the disease is almost entirely present in those who are white and of European decent. About 30,000 people in the U.S. have Cystic Fibrosis. Also, and for reasons unknown, men live longer than women with CF.
This is a multi-system disease that can be deadly, and most with CF never lived past 5 years of age until the 1950s. Today, about 40 percent of cystic fibrosis patients are adults. With proper dietary supplements, and antibiotics to treat lung infections, the lifespan of CF patients continues to increase.
Normally, CF is diagnosed when one is an infant- based on such things as low birth weight. Malnutrition is common due to the disease preventing the body from absorbing nutrients, and certain vitamins, such as vitamin D,E,A, or K. About 85 percent OF CF patients are deficient with such vitamins. In addition, genetic screening is now done on all neonates for up to 29 genetic disorders in most states in the U.S.
Aside from the CF patient experiencing often a dysfunctional pancreas, CF also causes lung infections and digestive problems as well. With cystic fibrosis, the glands in your exocrine system, glands that normally produce thin and slippery fluids for your internal organs instead produce thick mucus that essentially clogs your organs, such as your pancreas (mucovisidosis). This thick mucus also contributes to lung dysfunctions and infections as well.
There are pharmaceuticals that have yet to be approved designed to treat cystic fibrosis patients, which appear to be promising for those affected by this disease.
The CF patient may want to consider seeking out those doctors and hospitals who are specialists with cystic fibrosis for evaluative reasons and treatment reviews that will be best for them to address the complications of cystic fibrosis.
www.cff.org
Dan Abshear
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