Down syndrome is a genetic disorder that causes mental retardation and other problems. The condition varies in severity, so developmental problems may range from mild to serious.
Down syndrome is the most common genetic cause of severe learning disabilities in children, occurring in one in every 700 infants. Every year, as many as 6,000 babies are born with Down syndrome in the United States. The condition is named after John Langdon Down, the doctor who first identified the syndrome.
There's no medical cure for this condition. But increased understanding of Down syndrome and early interventions make a big difference in the lives of both children and adults with Down syndrome.
Causes:
Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair comes from your father, the other from your mother.
The cause of Down syndrome is one of three types of abnormal cell division involving the 21st chromosome. All three abnormalities result in extra genetic material from chromosome 21, which is responsible for the characteristic features and developmental problems of Down syndrome. The three genetic variations that can cause Down syndrome include:
Trisomy 21- More than 90 percent of cases of Down syndrome are caused by trisomy 21. A child with trisomy 21 has three copies of chromosome 21 — instead of the usual two copies — in all of his or her cells. This form of Down syndrome is caused by abnormal cell division during the development of the sperm cell or the egg cell.
Mosaic Down syndrome- In this rare form of Down syndrome, children have some cells with an extra copy of chromosome 21, but not all. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.
Translocation Down syndrome- Down syndrome can also occur when part of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. Children with translocation Down syndrome have the usual two copies of chromosome 21, but they also have additional material from chromosome 21 stuck to the translocated chromosome. This form of Down syndrome is uncommon.
Symptoms:
Children with Down syndrome have a distinct facial appearance. Though not all children with Down syndrome have the same features, some of the more common features are:
* Flattened facial features.
* Protruding tongue.
* Small head.
* Upward slanting eyes, unusual for the child's ethnic group.
* Unusually shaped ears.
Children with Down syndrome may also have:
* Poor muscle tone.
* Broad, short hands with a single crease in the palm.
* Relatively short fingers.
* Excessive flexibility.
Infants born with Down syndrome may be of average size, but typically they grow slowly and remain smaller than other children of similar age. Children with Down syndrome also have some degree of mental retardation, ranging from mild to moderate.
Diagnosis:
Various screening tests can help identify whether you have a high risk of carrying a baby with Down syndrome. Blood tests, such as the quad screen, have typically been offered around the 16th week of pregnancy to screen for Down syndrome, spina bifida and various other chromosomal disorders. These tests are still available. But the most effective screening is done in two steps between the 11th and 14th week of pregnancy:
Ultrasound- The doctor uses ultrasound to measure a specific region on the back of a baby's neck. This is known as a nuchal translucency screening test. When abnormalities are present, more fluid than usual tends to collect in this tissue.
Blood tests- Results of the ultrasound are paired with blood tests that measure levels of pregnancy-associated plasma protein-A (PAPP-A) and a hormone known as human chorionic gonadotropin (HCG). Abnormal levels of PAPP-A and HCG may indicate a problem with the baby.
Diagnostic tests during pregnancy
If your screening tests are positive or worrisome or you're at high risk of having a baby with Down syndrome, you might consider further testing to confirm the diagnosis. Diagnostic tests that can identify Down syndrome include:
Amniocentesis- A sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother's uterus. This sample is then used to analyze the chromosomes of the fetus. Doctors usually perform this test after 15 weeks of gestation. The test carries a risk of miscarriage of one in 200.
Chorionic villus sampling (CVS)- Cells taken from the mother's placenta can be used to analyze the fetal chromosomes. Typically performed between the ninth and 14th week of pregnancy, this test carries a risk of miscarriage of one in 100.
Percutaneous umbilical blood sampling (PUBS)- Blood is taken from a vein in the umbilical cord and examined for chromosomal defects. Doctors generally perform this test after 18 weeks of gestation. This test carries a greater risk of miscarriage than does amniocentesis or chorionic villus sampling. Generally, this test is only done when speed of diagnosis is essential.
Each of these three tests is 98 percent to 99 percent accurate in diagnosing Down syndrome before birth.
Treatment:
There's no medical treatment for Down syndrome that will provide a cure. But children with Down syndrome do benefit from medical help and early interventions, starting in infancy.
If your child has Down syndrome, you'll likely become acquainted with a team of doctors that may include a pediatric cardiologist, a gastroenterologist, a developmental pediatrician and other specialists. These doctors can detect and treat complications of Down syndrome, such as heart defects, gastrointestinal problems and hearing problems.
Your child's care team may also include a physical therapist, speech pathologist, occupational therapist and others. These specialists can help your child develop skills as fully as possible. For example, babies with Down syndrome don't have good muscle tone, so a physical therapist can help your baby learn to roll over, sit up and walk. Meanwhile, a speech pathologist or occupational therapist may help with feeding, hand coordination and language skills.
Ask your doctor about early intervention programs available in your area. These specialized programs — in which children with Down syndrome are stimulated at an early age with appropriate sensory, motor and cognitive activities — are available in most states. Programs vary from location to location, but they usually involve therapists and special educators whose goal is to help your baby develop motor skills, language, social skills and self-help skills.
In general, children with Down syndrome usually meet developmental milestones, but it may take them a little longer than it does for children without Down syndrome. For example, children with Down syndrome may take twice as long to sit, crawl, walk or say a first word. However, early intervention programs, started as soon as possible, may give kids with Down syndrome the best chance of success.
Down syndrome is the most common genetic cause of severe learning disabilities in children, occurring in one in every 700 infants. Every year, as many as 6,000 babies are born with Down syndrome in the United States. The condition is named after John Langdon Down, the doctor who first identified the syndrome.
There's no medical cure for this condition. But increased understanding of Down syndrome and early interventions make a big difference in the lives of both children and adults with Down syndrome.
Causes:
Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair comes from your father, the other from your mother.
The cause of Down syndrome is one of three types of abnormal cell division involving the 21st chromosome. All three abnormalities result in extra genetic material from chromosome 21, which is responsible for the characteristic features and developmental problems of Down syndrome. The three genetic variations that can cause Down syndrome include:
Trisomy 21- More than 90 percent of cases of Down syndrome are caused by trisomy 21. A child with trisomy 21 has three copies of chromosome 21 — instead of the usual two copies — in all of his or her cells. This form of Down syndrome is caused by abnormal cell division during the development of the sperm cell or the egg cell.
Mosaic Down syndrome- In this rare form of Down syndrome, children have some cells with an extra copy of chromosome 21, but not all. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.
Translocation Down syndrome- Down syndrome can also occur when part of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. Children with translocation Down syndrome have the usual two copies of chromosome 21, but they also have additional material from chromosome 21 stuck to the translocated chromosome. This form of Down syndrome is uncommon.
Symptoms:
Children with Down syndrome have a distinct facial appearance. Though not all children with Down syndrome have the same features, some of the more common features are:
* Flattened facial features.
* Protruding tongue.
* Small head.
* Upward slanting eyes, unusual for the child's ethnic group.
* Unusually shaped ears.
Children with Down syndrome may also have:
* Poor muscle tone.
* Broad, short hands with a single crease in the palm.
* Relatively short fingers.
* Excessive flexibility.
Infants born with Down syndrome may be of average size, but typically they grow slowly and remain smaller than other children of similar age. Children with Down syndrome also have some degree of mental retardation, ranging from mild to moderate.
Diagnosis:
Various screening tests can help identify whether you have a high risk of carrying a baby with Down syndrome. Blood tests, such as the quad screen, have typically been offered around the 16th week of pregnancy to screen for Down syndrome, spina bifida and various other chromosomal disorders. These tests are still available. But the most effective screening is done in two steps between the 11th and 14th week of pregnancy:
Ultrasound- The doctor uses ultrasound to measure a specific region on the back of a baby's neck. This is known as a nuchal translucency screening test. When abnormalities are present, more fluid than usual tends to collect in this tissue.
Blood tests- Results of the ultrasound are paired with blood tests that measure levels of pregnancy-associated plasma protein-A (PAPP-A) and a hormone known as human chorionic gonadotropin (HCG). Abnormal levels of PAPP-A and HCG may indicate a problem with the baby.
Diagnostic tests during pregnancy
If your screening tests are positive or worrisome or you're at high risk of having a baby with Down syndrome, you might consider further testing to confirm the diagnosis. Diagnostic tests that can identify Down syndrome include:
Amniocentesis- A sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother's uterus. This sample is then used to analyze the chromosomes of the fetus. Doctors usually perform this test after 15 weeks of gestation. The test carries a risk of miscarriage of one in 200.
Chorionic villus sampling (CVS)- Cells taken from the mother's placenta can be used to analyze the fetal chromosomes. Typically performed between the ninth and 14th week of pregnancy, this test carries a risk of miscarriage of one in 100.
Percutaneous umbilical blood sampling (PUBS)- Blood is taken from a vein in the umbilical cord and examined for chromosomal defects. Doctors generally perform this test after 18 weeks of gestation. This test carries a greater risk of miscarriage than does amniocentesis or chorionic villus sampling. Generally, this test is only done when speed of diagnosis is essential.
Each of these three tests is 98 percent to 99 percent accurate in diagnosing Down syndrome before birth.
Treatment:
There's no medical treatment for Down syndrome that will provide a cure. But children with Down syndrome do benefit from medical help and early interventions, starting in infancy.
If your child has Down syndrome, you'll likely become acquainted with a team of doctors that may include a pediatric cardiologist, a gastroenterologist, a developmental pediatrician and other specialists. These doctors can detect and treat complications of Down syndrome, such as heart defects, gastrointestinal problems and hearing problems.
Your child's care team may also include a physical therapist, speech pathologist, occupational therapist and others. These specialists can help your child develop skills as fully as possible. For example, babies with Down syndrome don't have good muscle tone, so a physical therapist can help your baby learn to roll over, sit up and walk. Meanwhile, a speech pathologist or occupational therapist may help with feeding, hand coordination and language skills.
Ask your doctor about early intervention programs available in your area. These specialized programs — in which children with Down syndrome are stimulated at an early age with appropriate sensory, motor and cognitive activities — are available in most states. Programs vary from location to location, but they usually involve therapists and special educators whose goal is to help your baby develop motor skills, language, social skills and self-help skills.
In general, children with Down syndrome usually meet developmental milestones, but it may take them a little longer than it does for children without Down syndrome. For example, children with Down syndrome may take twice as long to sit, crawl, walk or say a first word. However, early intervention programs, started as soon as possible, may give kids with Down syndrome the best chance of success.
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