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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.


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SYMPTOMS

  • Flattened face, especially the nose

  • Short neck

  • 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

  • Excessive flexibility

  • Poor judgement capability

  • Problems with concentration

  • Delayed language

  • 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.


CAUSES


  • Late pregnancy (maternal age)

  • Carriers of genetic translocation


DIAGNOSIS AND TREATMENT


  • Screening tests which occurs in two trimesters

  • Diagnostic tests/ prenatal tests which include

  1. Chorionic Villus Sampling (CVS): to analyze the placenta

  2. Amniocentesis: analyzing the amniotic fluid to determine the number of chromosomes the baby has

  3. 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.

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