Down syndrome is a genetic disorder caused by an extra full or partial copy of chromosome 21 as a result of abnormal cell division. This extra genetic material is responsible for the developmental changes and physical characteristics of Down syndrome. This is caused by abnormal cell division during the sperm or egg cell development.
How often does Down syndrome occur?
Down syndrome has been previously and still remains the most common chromosomal disorder. Every year, approximately 6,000 babies are born with Down syndrome, accounting for approximately one in every 700 births. Older mothers are more likely to have a baby affected by Down syndrome than younger mothers. The frequency of this disorder has been increasing over the past half century. Between the years of 1979 and 2003, the number of babies born with Down syndrome increased by approximately 30%. A possible reason for this change is that people ae having babies later in life, dramatically increasing the chance of birthing a child with Down Syndrome.
What ways can the disorder be diagnosed?
The appearance of the baby is frequently used to make the initial diagnosis of Down syndrome after birth. However, because the characteristics associated with Down syndrome can be found in babies without Down syndrome, your doctor will most likely order a test called a chromosomal karyotype to confirm the diagnosis. This test examines your child's chromosomes using a blood sample. Down syndrome is diagnosed when there is an extra chromosome 21 in all or some cells.
Down syndrome can also be screened for before birth, during the first trimester. The first trimester combined test, which is done in two steps, includes:
Blood test. This blood test measures the levels of pregnancy-associated plasma protein-A and the pregnancy hormone known as human chorionic gonadotropin . high levels of these things could indicate a problem occurring during the babies development.
Nuchal translucency test. In this test, a specific region on the back of your baby's neck is measured using an ultrasound. A screening test for nuchal translucency is being conducted here. Fluid tends to build up in this neck tissue in excess when abnormalities are present.
What symptoms do people with Down Syndrome experience?
Down syndrome causes physical, cognitive (thinking) and behavioral symptoms.
Physical signs of Down syndrome can include:
Short, stocky physical size, with a short stubby neck.
Poor muscle tone.
Flattened facial features, especially the bridge of the nose.
Almond-shaped eyes that slant upward.
Tiny feet and hands.
Single deep crease across the center of the palm of the hand.
Common learning and behavioral symptoms of Down syndrome include:
Delays in speech and language development.
Difficulty with sleeping (insomnia)
Stubbornness and tantrums.
Delays in cognition.
Delayed toilet training.
Not all people with Down syndrome experience these symptoms. Symptoms and their severity vary significantly from person to person.
Are there any available treatments for Down Syndrome?
Down syndrome is incurable. Early intervention programs can aid in skill development. Speech, physical, occupational, and/or educational therapy are a few examples. Many people with Down syndrome lead happy, fruitful lives with assistance and treatment. Treatments are based on each individual's physical and intellectual needs as well as his or her personal strengths and limitations.