DOWN SYNDROME (TRISOMY 21)

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Genetic Medicine , Neurology , Paediatrics - Medicine

ABOUT THE DISEASE

Down syndrome (Trisomy 21) is a genetic condition that results when there is an extra copy of a specific chromosome, chromosome 21. It is characterized by a variety of distinctive physical features, an increased risk of certain medical problems, and varying degrees of developmental and intellectual delays. Birth defects such as hypothyroidism, heart defects, vision problems, blood disorders, infections, poor muscle tone, and epilepsy etc. are common in people with Down syndrome and lead to physical and mental disabilities.

SYMPTOMS

• Characteristic physical appearance such as flattened head in back, skin folds on the eyelids, flattened nose bridge, protruding tongue, short and broad hands, and a short neck
• Decreased or poor muscle tone
• Mental and social development delays
• Short attention span
• Poor judgment
• Slow learning
• Delayed language and speech development

CAUSES

Down syndrome is caused due to an error in cell division resulting in an extra chromosome 21, which is why Down syndrome is also sometimes called Trisomy 21. People with Down syndrome have 47 chromosomes in their cells instead of 46. This extra genetic material is responsible for the characteristic features and developmental problems of Down syndrome.

DIAGNOSIS

Children with Down syndrome usually are diagnosed before or at birth. If a pregnant woman`s screening tests show a possibility of her baby having this syndrome, diagnostic tests can be performed during pregnancy to confirm it. Diagnostic tests are more accurate in detecting Down syndrome and other problems.

Prenatal diagnostic tests include:
- Chorionic villus sampling (CVS): In this procedure, a small sample of the placental tissue is tested, usually during 11-14 week pregnancy
- Amniocentesis – In this procedure, a sample of amniotic fluid is tested, usually during 15-20 week pregnancy
- Percutaneous umbilical blood sampling: After 20 weeks, a small sample of blood is taken from the umbilical cord for analysis, using a needle inserted into the abdomen.

Postnatal tests:
To diagnose Down syndrome after birth, doctor carefully examines the baby for the physical signs of the condition. He takes a small sample of the baby`s blood to test for the extra chromosome that causes this syndrome.

TREATMENT METHODS

There is no treatment to reverse the genetic abnormality that causes Down syndrome. However, many of the associated medical and developmental conditions can be treated to:

• improve the child`s development
• enhance the person`s quality of life, and
• increase his or her life expectancy.

Several health care professionals may be required to correctly assess and layout the treatment course for an individual with Down syndrome. Surgery may be required for cardiac or gastrointestinal problems. Conventional interventions such as physiotherapy and speech-and-language therapy facilitate the development of optimal movement-and-speech patterns in children with Down syndrome.