Down Syndrome of Definition:
It is the commonest chromosomal disorder in which chromosome is in triplicate (Trisomy), most often due to nondisjunction (abnormal number chromosomes) of maternal chromosomes 21, associated with advanced maternal age.
Many of the disabilities are lifelong and they can also sorter life expectancy. However people with Down syndrome can live healthy and fulfilling lives. Recent medical advances as well as cultural and institutional support for people with Down syndrome.
own syndrome and their families provides many of opportunities to help overcome the challenges of this condition.
A genetic chromosome 21 disorder causing development and intellectual delays.
Down syndrome of Causes:
Human cells normally contain 23 pairs of chromosomes. One chromosomes in each pair comes from your father, The Other from your mother.
About 95 % of the time, down syndrome is caused by trisomy 21— the person has three copies of chromosome 21 instead of the usual two copies in all cells. This is caused by abnormal cells division during the development of the sparm cell or the egg cell.
- Translocation Down syndrome: This type accounts for small percentage of people with Down syndrome (about 3%) this occurs when an extra part of a whole extra chromosome 21 is present but it is attached or “trans-located” to a different chromosome rather than being separate chromosome 21.
- Mosaic Down syndrome: This type affects (about 2%), of the people with Down syndrome. Mosaic means mixture or combination. For children with mosaic down syndrome some of their cells have three copies of chromosome 21 but other cells have the typical two copies of chromosome 21. However they may have fewer features of the condition due to the presence of some or many cells with a typical number of chromosomes.
Down syndrome of symptoms:
A birth babies with down syndrome usually have certain characteristic sign including.
- Flat occiput, large anterior fontanelle.
- Endocardial septum defect like ASD, or VSD.
- Flat nasal bridge, protruding tongue.
- Brush field’s sport. Grey or very light yellow sports at the periphery of iris.
- Increased space between 1, and 2, toes.
- Enlarge colon.
- Up slan ting palp ebral fissures.
- Single Palmer (simian) Crease.
- Umbilical hernia.
- Intestine stenosis.
- Short and broad hands.
- Abnormal ear.
- A short neck.
- Small Pinky fingers that sometimes curve toward the thumb.
- Sorter in height a children and adults.
People with Down syndrome usually have some degree of development disability but it’s often mild to moderate. Mental and social development delays may mean that the child could have.
Down syndrome of Risk factors:
Some parents have a greater risk of having a baby with Down syndrome. Risk factors include.
- Advancing maternal age: A women’s chances of giving birth to a child with Down syndrome increase with age because older ages have a greater risk of improper chromosome division. A women’s risk of conceiving a child with Down syndrome increases after 35 years of age. However, most children with Down syndrome are born to women under age 35 because younger woman have far more babies.
- Having had one child with Down syndrome: Parents who have one child with Down syndrome and parents who have a translocation themselves or at an increased risk of having another child with Down syndrome. A genetic counselor can help parents assess the risk of having a second child with Down syndrome.
- Being carrier of the genetic translocation for Down syndrome: Both men and women can pass the genetic translocation for down syndrome on to their children.
Complications of Down syndrome:
Having Down syndrome also increased the risk of developing Alzheimer’s disease. Other problems. Down syndrome may also be associated with other health conditions including endocrine problems, dental problems, seizures, ear infection, and hearing and vision problems,
- Spinal problems: Some people with Down syndrome may have misalignment of the top two vertebra in the neck (atlantoaxial instability). This condition puts them at risk of serious injury to the spinal cord from overextension of the neck.
- Dementia: People with Down syndrome have a greatly increased ricks of dementia– signs and symptoms may being around age 50. Having Down syndrome also increase the risk of developing Alzheimer’s disease.
- Heart defects: About half the children with Down syndrome are born with some type of congenital heart defect. These heart problems can be life threatening and may require surgery in early infancy
Screening for Down syndrome during pregnancy:
Screening for Down syndrome is offered as a routine part of prenatal care in the United States. If you’re a woman over 35 your baby’s father is over 40, or there’s a family history of Down syndrome you may want to get an evaluation.
An ultrasound evaluation and blood tests can look for Down syndrome in your fetus. These tests have a higher False-positive rate then tests done at later pregnancy stages. If result aren’t normal your doctor may follow up with an amniocentesis after your 15th week of pregnancy.
An ultrasound and quadruple marker screen (QMS) test can help identify Down syndrome and other defects in the brain and spinal cord. This test is done between 15 and 20 weeks of pregnancy.
If any of these test aren’t normal, you’ll be considered at high risk for birth defects.
Down syndrome treatment:
There’s no specific treatment for Down syndrome what there is a wide range of physical and development therapies designed to help people with Down syndrome reach their full potential. The earlier you start them, the better, Each child will have different needs. Yours may benefit from.
- Physical, occupational, and speech therapy.
- Social and recreation activities.
- Specialized education services.
- Programs that offer job training and teach self-care skills.
You’ll also work closely with your child’s doctor to watch for and manage any health problems associated with the condition.
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By GS India Nursing……….!!