What You Need To Know About Down Syndrome: Down syndrome is a genetic disorder that can manifest itself in a variety of physical and developmental difficulties.
Down syndrome is a condition in which a person is born with an extra chromosome. Chromosomes are genetic bundles, and your body depends on having an optimal number of them. Down syndrome is a condition caused by an extra chromosome that causes a variety of problems both mentally and physically.
Down syndrome is a chronic disorder that requires lifetime care. Although HIV cannot be cured, doctors today have a better understanding of it than ever before. If your kid has it, early intervention can make a significant difference in their ability to live a full and meaningful life.
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Several frequent physical characteristics of Down syndrome include the following:
- A face that has been flattened, particularly the bridge of the nose
- Eyes with the shape of an almond that slope upward
- A slender neck
- Ears that are little
- A tongue that protrudes from the mouth
- On the iris (colored region) of the eye, there are tiny white specks.
- Hands and feet are diminutive.
- A single line running horizontally across the palm of the hand (palmar crease)
- Pinky fingers are little and can bend toward the thumb.
- Inadequate muscular tone or sloppy joints
- As children and adults, we are shorter in stature.
What Is the Frequency of Down Syndrome?
According to the Centers for Disease Control and Prevention, roughly one in every 700 newborns is born with Down syndrome in the United States, making it the most prevalent chromosomal disorder. Each year, approximately 6,000 newborns with Down syndrome are born in the United States.
Down Syndrome’s Subtypes
Down syndrome is classified into three subtypes. Because the physical characteristics and behaviors of each type are typically identical, people frequently cannot determine the difference between them without examining the chromosomes.
1. Trisomy 21: Approximately 95% of individuals with Down syndrome have Trisomy 21.2. In this kind of Down syndrome, each cell in the body contains three distinct copies of chromosome 21 rather than the usual two.
2. Translocation Down syndrome: This subtype accounts for a relatively modest proportion of individuals with Down syndrome (about 3 percent ). This occurs when an additional part or entire chromosome 21 is present, but it is connected to or “translocated” to another chromosome rather than being a distinct chromosome 21.
3. Mosaic Down syndrome: About 2% of people with Down syndrome have this form.
2 Mosaic is a term that refers to a mixture or combination. Children with mosaic Down syndrome have some cells with three copies of chromosome 21, while others have the standard two copies. Individuals with mosaic Down syndrome may exhibit the same characteristics as other Down syndrome children. They may, however, exhibit fewer of the condition’s characteristics due to the presence of some (or many) cells with a normal number of chromosomes.
What Factors Contribute to the Development of Down Syndrome?
Whatever type of Down syndrome a person has, they all have an additional, important part of chromosome 21 in all or some of their cells. This additional genetic material changes the course of development and results in the Down syndrome traits.
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The cause of the additional whole or partial chromosome is unknown at this time. Only maternal age has been associated to an increased risk of having a child with Down syndrome as a result of nondisjunction or mosaicism. However, due to younger women’s greater birth rates, 80 percent of infants with Down syndrome are born to women under the age of 35.
There is no conclusive scientific evidence that Down syndrome is caused by environmental factors or the parents’ pre- or post-pregnancy activity.
Down syndrome is caused by an additional partial or complete copy of the 21st chromosome that can be inherited from either the father or the mother. Around 5% of instances have been linked to the father.
What Is the Diagnosis Procedure for Down Syndrome?
1. Screening Examinations: During pregnancy, a woman can be screened to determine whether her baby is likely to have Down syndrome. Blood tests and an ultrasound are used in the screenings. However, a screening test does not constitute a diagnosis.
During the first trimester, a blood test for aberrant levels of pregnancy-associated plasma protein-A (PAPP-A) and the hormone human chorionic gonadotropin is used to screen for Down syndrome (HCG). Additionally, your doctor will do an ultrasound called the nuchal translucency test to check for abnormally high levels of fluid behind a baby’s neck, which may be a symptom of Down syndrome.
During the first and second trimesters of pregnancy, some women elect to undergo blood screening tests. The first-trimester test is identical to that described previously. The second-trimester test, referred to as a quad screen, detects alpha fetoprotein, estriol, human chorionic gonadotropin, and inhibin A. arrow to the right up
Additionally, beginning in the tenth week of pregnancy, a novel test called cell-free DNA testing or noninvasive prenatal screening (NPT) can be conducted. It examines the DNA of a pregnant woman’s baby for Down syndrome risk using a blood sample. A positive test reliably predicts Down syndrome around 98.6% of the time, while a negative result accurately predicts that a kid does not have Down syndrome approximately 99.8% of the time. arrow to the right up
Due to the likelihood of false positives, your doctor or genetic counselor will use the test findings and your baby’s age to calculate your baby’s chance of developing Down syndrome. Additional tests can confirm or rule out a diagnosis.
2. Diagnostic Examinations: While diagnostic tests are more precise, they do entail some danger for both mother and child. After the tenth week of pregnancy, two diagnostic tests are available: chorionic villus sampling, which examines chromosomes in a small sample of the placenta, and amniocentesis, which examines chromosome numbers in amniotic fluid. They are virtually 100% accurate in detecting Down syndrome, but have a 0.1 to 0.3 percent risk of miscarriage with amniocentesis and a 0.22 percent risk with chorionic villus collection (equal to 1 to 3 miscarriages per 1,000 procedures). directly up arrow
3. Diagnosis Post-Birth:Down syndrome can also be detected at birth and may be quite easy to detect by medical personnel. “Most of the time, Down syndrome can be identified in the newborn nursery,” Vellody explains. “The characteristics of the baby are usually fairly obvious to the doctor.”
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Typically, babies with Down syndrome have a deep furrow across their palm, upward-slanting eyes, and a somewhat flattened face. At birth, some newborns without Down syndrome exhibit Down-like characteristics. If a baby is born with these characteristics, the doctor will perform blood tests to identify whether the infant has an additional whole or partial copy of chromosome 21. Typically, results are ready within 48 hours, although a more thorough investigation may take up to five days.
Down Syndrome Treatment and Medication Options
Due to the fact that Down syndrome is a chromosomal abnormality and not a disease, there are no medications available to treat it and no means to cure or reverse the disorder. The focus is on identifying therapies and programs that can assist children with Down syndrome in their physical and intellectual development.
Infants with Down syndrome can participate in early intervention programs until they reach their third birthday. These programs (and their availability) vary by location, but they generally give professional assistance to children and families through physical therapists, occupational therapists, speech therapists, special educators, and social workers. Participating in these programs has been demonstrated to improve children’s results.
