WHAT IS DOWN SYNDROME?
Down syndrome is a genetic condition in which a person is born with an extra pair of their 21 chromosomes and is hence also called Trisomy 21. The extra chromosomes lead to developmental delays both mentally and physically leading to several complexities.
Down Syndrome cannot be prevented. The medical problems may vary from child to child even though a person with Down Syndrome could look and act in a similar manner. People with Down syndrome can lead a satisfying and healthy life with early intervention. It occurs in 1 out of 700 pregnancies.
Flattened face, especially the nose
Small head with unusually shaped ears
Upward slanting eyes that are almond shaped
Bulging protruding tongue
Tiny hands feet and stature
Single crease in palm (palmar crease) with short hands
Loose joints or weak muscle tone
Poor judgement capability
Problems with concentration
Delayed overall development
TYPES OF DOWN SYNDROME
Trisomy 21 Down Syndrome: this is the most common form of Down Syndrome with 95% percent of the times this condition is caused by the individual having an extra copy of the chromosome 21 i.e. three instead of two. This occurs due to abnormal cell division during the development of the sperm/egg cell
Mosaic Down Syndrome/Mosaicism: This is a rare form of Down Syndrome with only 2% of the people with down syndrome having this condition. In mosaicism, a child is born with extra chromosomes in certain but not all cells. So a number of cells but not all have an extra copy of the chromosome 21.
Translocation Down Syndrome: this occurs to about 3% of the people with Down syndrome. In this type of Down syndrome, an extra part copy of the chromosome 21 gets attached (translocated) to another chromosome.
Late pregnancy (maternal age)
Carriers of genetic translocation
DIAGNOSIS AND TREATMENT
Screening tests which occurs in two trimesters
Diagnostic tests/ prenatal tests which include
Chorionic Villus Sampling (CVS): to analyze the placenta
Amniocentesis: analyzing the amniotic fluid to determine the number of chromosomes the baby has
Percutaneous umbilical blood sampling(PUBS): The blood of the umbilical cord is analyzed to ensure no chromosome defects
Early intervention services and therapies like physical, speech and occupational make a huge difference in the child’s development years of life.