Down Syndrome

What Is Down Syndrome?

Down syndrome is a chromosomal disorder caused by an additional (third) chromosome 21 or "trisomy 21." t is not usually hereditary in the conventional sense. That is, it is not inherited; it does not "run in families." The condition is usually the result of a random event that occurs during the formation of reproductive cells (eggs and sperm). One exception is Down syndrome caused by a balanced translocation. is associated with mental retardation, a characteristic facial appearance, and poor muscle tone (hypotonia)This syndrome occurs in one out of 800 live births, in all races and economic groups. It is the most frequent genetic cause of mild to moderate mental retardation and associated medical problems. As far as we know, it is not caused by any behavioral activity of the parents or environmental factors.

Risk Factors for a Down Syndrome Baby

There are several established risk factors for this condition, including:

• Having a Down syndrome baby previously
• Increasing maternal age
• Carriers of a balanced translocation.

Characteristics of Down Syndrome Symptoms

There are estimated to be over 100 characteristics of Down syndrome. Common characteristics of Down syndrome can include:

• A flat facial profile
• An upward slant to the eye
• A short neck
• Abnormally shaped ears
• White spots on the iris of the eye (called Brushfield spots)
• A single, deep transverse crease on the palm of the hand
• Smaller than average size
• Exaggerated space between the first and second toe
• Poor muscle tone (called hypotonia)
• Joint looseness
• Broad feet with short toes
• Learning disabilities.

Besides the physical characteristics, people with Down syndrome are also at increased risk of developing certain medical conditions that come with their own set of symptoms. Some of these conditions can include:

• Thyroid problems
• Hearing problems
• Congenital heart disease
• Eye problems
• Seizure disorders
• Bone, muscle, nerve, or joint problems
• Leukemia and other cancers
• Immune system problems
• Developmental delay
• Mental retardation
• Premature aging
• Alzheimer's disease.

Because of these medical conditions and their complications, a person with Down syndrome is at increased risk of premature death. Regular checkups are very important. Checkups help ensure that any changes in health are noted and treated if necessary.

Down Syndrome Diagnosis

Tests used to make a Down syndrome diagnosis include amniocentesis, chorionic villus sampling (CVS), and percutaneous umbilical blood sampling (PUBS). To confirm the diagnosis, the doctor may request a blood test called a chromosomal karyotype. The doctor may also make a Down syndrome diagnosis shortly after birth, based on the presence of possible characteristics of the disorder. This blood test goes by several names, including:




• Multiple marker screening test
• Maternal blood screening test
• Triple screen
• Quad screen.




Treatment for Down Syndrome




Because it is a problem with the chromosomes, there are no cure , the goals of Down syndrome treatment are to control symptoms and manage any resulting medical conditions. This includes regular checkups and screenings, medications, and surgery. Counseling and support groups are also aspects of treatment for those who need help in coping with emotional and practical aspects of Down syndrome.




Down Syndrome Research

Scientists conducting research on Down syndrome are investigating new prenatal diagnostic techniques and methods to improve understanding of the developmental consequences of the disorder. This research has led to many advances, such as preimplantation diagnosis. Couples who join research studies have the first chance to benefit from treatments that have shown promise in earlier research.