Sie sind auf Seite 1von 2

About Down Syndrome develops, both mentally and physically.

The physical features and medical problems associated with Down syndrome can vary widely from child to child. While some kids with DS need a lot of medical attention, others lead healthy lives. Though Down syndrome can't be prevented, it can be detected before a child is born. The health problems that may go along with DS can be treated, and many resources are available to help kids and their families who are living with the condition. Causes Normally, at the time of conception a baby inherits genetic information from its parents in the form of 46 chromosomes: 23 from the mother and 23 from the father. In most cases of Down syndrome, a child gets an extra chromosome 21 for a total of 47 chromosomes instead of 46. It's this extra genetic material that causes the physical features and developmental delays associated with DS. Although no one knows for sure why DS occurs and there's no way to prevent the chromosomal error that causes it, scientists do know that women age 35 and older have a significantly higher risk of having a child with the condition. At age 30, for example, a woman has about a 1 in 1,000 chance of conceiving a child with DS. Those odds increase to about 1 in 400 by age 35. By 40 the risk rises to about 1 in 100. Signs and symptoms Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and a protruding tongue. Low muscle tone (called hypotonia) is also characteristic of children with DS, and babies in particular may seem especially "floppy." Though this can and often does improve over time, most children with DS typically reach developmental milestones like sitting up, crawling, and walking later than other kids. At birth, kids with DS are usually of average size, but they tend to grow at a slower rate and remain smaller than their peers. For infants, low muscle tone may contribute to sucking and feeding problems, as well as constipation and other digestive issues. Toddlers and older kids may have delays in speech and self-care skills like feeding, dressing, and toilet teaching. Down syndrome affects kids' ability to learn in different ways, but most have mild to moderate intellectual impairment. Kids with DS can and do learn, and are capable of developing skills throughout their lives. They simply reach goals at a different pace which is why it's important not to compare a child with DS against typically developing siblings or even other children with the condition. Medical problems assoc with DS While some kids with DS have no significant health problems, others may experience a host of medical issues that require extra care. For example, almost half of all children born with DS will have a congenital heart defect. Kids with Down syndrome are also at an increased risk of developing pulmonary hypertension, a serious condition that can lead to irreversible damage to the lungs. All infants with Down syndrome should be evaluated by a pediatric cardiologist. Approximately half of all kids with DS also have problems with hearing and vision. Hearing loss can be related to fluid buildup in the inner ear or to structural problems of the ear itself. Vision problems commonly include strabismus (cross-eyed), near- or farsightedness, and an increased risk of cataracts. Other medical conditions that may occur more frequently in kids with DS include thyroid problems, intestinal abnormalities, seizure disorders, respiratory problems, obesity, an increased susceptibility to infection, and a higher risk of childhood leukemia. Treatment for Down Syndrome

Because it is a problem with the chromosomes, there are no cures for Down syndrome. Therefore, treatment for the condition focuses on controlling symptoms and any medical conditions that result because of Down syndrome. Treatment for Down syndrome can include: * Regular checkups and screening (Congenital heart disease, Leukemia and other cancers, Immune system problems,Thyroid problems, Bone muscle nerve or joint problems, Hearing problem, Eye problems, Seizure disorders, Premature aging) * Surgery * Counseling and support. Pathophysiology: Down syndrome is a chromosomal disorder in which there are three copies of the 21st chromosome. The most common cause of trisomy 21 is nondisjunction (95%), followed by mosiacism (1-2%) and translocation (3 to 4%). Nondisjunction is a faulty cell division that occurs before or at conception when a pair of number 21 chromosomes, in either the sperm or the egg, fail to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body. The cause is unknown. Mosaicism occurs after fertilization when nondisjunction of chromosome 21 takes place during an initial cell division. The result is that some of the cells have 47 chromosomes (the 21st chromosome having 3 copies) and some have 46. Mosaicism causes a more mild form of Down syndrome. Translocation occurs either before or at conception and involves part of chromosome 21 breaking off during cell division and attaching to another chromosome. The total number of chromosomes remains 46, but because of the additional part of the 21st chromosome, the child will have features of Down syndrome.36,37 Nursing Management: 1. Assess for associated problems. 2. Administer medications which maybe prescribed for associated problems. 3. Implement a plan of care that is the same as for mental retardation. Include planning and intervention strategies for associated problems and features. 4. Encourage genetic counseling. 5. Explain hypertonicity and joint hyperextensibility to parents, and that the childs resultant lack of clinging is physiologic and not a sign of detachment. 6. Prevent respiratory infections by clearing the nose with a bulb syringe, using a cool mist vaporizer, performing chest physiotherapy when needed, providing good handwashing and avoiding exposure to infection. 7. When feeding infants and young children, use a small, straight-handled spoon to push food to the side and back of the mouth. Feeding difficulties occur due to a protruding tongue and hypotonia. 8. Encourage fluids and foods rich in fiber. Constipation results from decreased muscle tone, which affects gastric motility. 9. Provide good skin care because the skin is dry and prone to infection.

Das könnte Ihnen auch gefallen