DOWN SYNDROME

Joenah joyce L. Esmalla BEED-SPED

What is Down Syndrome?

It is a chromosomal abnormality. Babies with down syndrome usually have an extra chromosome in each cell, and this can affect all parts of the body.

Normal chromosomal basics

Normally, each human cell contains 23 pairs of different chromosomes. At conception, an individual inherits: 23 chromosomes from mother + 23 chromosomes from father = 46 chromosomes

Chromosome basics of Down syndrome:

In Down syndrome, an individual most often inherits two copies of chromosome 21 from the mother and one chromosome 21 from the father for a total of three chromosomes 21. It is called trisomy 21 . About 95% of individuals with Down syndrome inherit an entire extra chromosome 21.

 But approximately 3% to 4% of individuals with Down syndrome do not inherit an entire extra chromosome 21, but just some extra chromosome 21 genes, which are attached to another chromosome. This is called a translocation

Example: The parent has exactly two copies of chromosome 21, but some of the genes are distributed to another chromosome. If a baby inherits the chromosome with the extra genes from chromosome 21, then the child will have Down syndrome

 About 2% to 4% of people with Down syndrome inherit additional genes from chromosome 21, but not in every cell of the body. This is known as mosaic Down syndrome

Example: These individuals may have inherited extra genes from chromosome 21 in their muscle cells, but not in any other type of cell. They often don't have all the typical physical characteristics and may not be as severely intellectually impaired as people with full trisomy 21.

What causes Down syndrome?

As of now, there are no findings what causes the presence of an extra chromosome. But no one is to blame. Nothing done before or during pregnancy can cause Down's syndrome. It occurs in all races, social classes and in all countries throughout the world.

Characteristic features and symptoms of Down syndrome

Flattened face and nose, a short neck, a small mouth sometimes with a large, protruding tongue, small ears, upward slanting eyes that may have small skin folds at the inner corner . white spots, also known as Brushfield spots may be present on the colored part of the eye.

 Hands are short and broad with short fingers, and with a single crease in the palm. Poor muscle tone and loose ligaments are also common. Development and growth is usually delayed and often average height and developmental milestones are not reached.

 Children with Down syndrome usually are cognitively challenged to some degree. The challenge can range from: educable children= 50-70 Profoundly affected= less than 20 They are also appear to have altered immune function.

Screening tests:
Alpha-fetoprotein (AFP) screening test Nuchal translucency test Ultrasound Amniocentesis Chorionic villus sampling

Intervention
physical therapy occupational therapy speech therapy

 Corrective surgery for heart defects, gastrointestinal irregularities, and other health issues is necessary for some individuals. Regular health checkups should be scheduled to screen for other conditions such as visual impairments, ear infections, hearing loss, obesity, and other medical conditions.

Educational placement
Educational placement is a matter of choice, and parents must select the most suitable and appropriate form of education for their child. All available options should be considered and weighed up before deciding which setting will best suit the needs of each individual child.

This may be a:

Mainstream school Special class or unit within a mainstream school Special school

REFERENCES:
http://www.babycenter.com.ph/ http://www.medicinenet.com/ Maternal and child Nursing Adele Pilliteri