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Explain Down Syndrome – Part 2

Down syndrome (DS), also known as Trisomy 21, is often a condition wherein an extra genetic chromosome adds on causing delays in the child development, both mentally and physically.

Medical Problems Associated With Down Syndrome

• Even though children with Down Syndrome have zero significant health conditions, others may go through a number of medical issues that require special care.
• For instance, almost 50 % of all children born with DS may have a congenital heart defect.
• Children with Down syndrome are at an increased risk of developing pulmonary hypertension.
• It is a serious condition that can lead to irreversible destruction of the lungs.
• All infants with Down syndrome ought to be evaluated by the pediatric cardiologist.
• Approximately 1/2 of all children with DS likewise have difficulty with hearing and vision.
• Hearing problems is usually related to fluid buildup in the inner ear or structural problems in the ear itself.

Vision problems commonly include:
– Strabismus
– Near- or farsightedness
– A higher risk of cataracts.
• Regular evaluations by an otolaryngologist, audiologist, and an ophthalmologist are essential.
• It is best to detect and correct any troubles before they affect language and learning skills.

Other medical conditions which will occur with greater regularity in children with Down Syndrome include:
– Thyroid problems
– Intestinal abnormalities
– Seizure disorders
– Respiratory problems
– Obesity
– A heightened inclination towards infection
– A higher risk of childhood leukemia
– Upper neck abnormalities

Prenatal Screening and Diagnosis

Two kinds of prenatal tests are employed to detect Down syndrome within a fetus:
– Screening tests
– Diagnostic tests
• Screening tests estimate the risk that the fetus has Down Syndrome.
• Diagnostic tests can detect whether the fetus actually has got the condition or not.
• Screening tests are cost-effective to execute.
• But because they can’t supply a definitive answer whether a child has Down Syndrome, these tests are employed to help parents decide in getting diagnostic tests.
• Diagnostic tests are 99% accurate in detecting Down syndrome.
• These tests are also accurate in detecting other chromosomal abnormalities.
• However, because they’re performed in the uterus, they may be associated with a risk of miscarriage and also other complications.

This is why an invasive diagnostic testing previously was generally recommended limited to:
– Women of age 35 or older
– Those with a family history of genetic defects
– Those that had an abnormal result in a screening test.

Screening tests include:
– Nuchal translucency testing
– Integrated screen
– A hereditary ultrasound

Diagnostic tests include:
– Chorionic villus sampling (CVS)
– Amniocentesis
– Percutaneous umbilical blood sampling (PUBS)

Resources that can help in Down Syndrome

• In case you are parents of the child clinically determined to have Down syndrome, you could possibly to start to feel overwhelmed by feelings of loss, guilt, and fear.
• Discussing with other parents of children with Down Syndrome can help you deal with your initial shock and grief and locate ways to look toward the longer term.
• Many parents see that learning about Down Syndrome help ease some of their fears.
• Experts recommend enrolling children with Down syndrome in early-intervention services as quickly as possible.
• Physical, occupational, and speech therapists and early-childhood educators can figure using your child to encourage and accelerate development.
• Many states provide free early-intervention services to children with disabilities from birth to age 3.
• The best places to send your child to school generally is a difficult decision.
• Some children with Down syndrome have needs which can be best met in a specialized program.
• Many others prosper attending neighborhood schools alongside peers who don’t have Down Syndrome.
• Reports have shown this style of situation, called inclusion, works for both the child with Down Syndrome in addition to the other children.
• Today, many children with Down syndrome head over to school and enjoy lots of the same activities as other children a comparative age.
• Many transit to semi-independent living.
• Still others carry on living in house.
• However, they are in a position to hold jobs.

Down Syndrome Parenting 101 Down Syndrome: An Overview Babies with Down Syndrome

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