Down Syndrome

What Is Down Syndrome?

Down Syndrome is a genetic disorder and the most common autosomal chromosome abnormality in humans, where extra genetic material from chromosome 21 is transferred to a newly formed embryo. These extra genes and DNA cause changes in development of the embryo and fetus resulting in physical and mental abnormalities. Each patient is unique and there can be great variability in the severity of symptoms.

What Causes Down Syndrome?

Normally, the human body has 23 pairs of chromosomes (called autosomes) and two sex chromosomes (allosomes). At conception, a new cell is formed that receives one copy of each chromosome from the sperm and one copy from the egg. The new cell divides and multiplies to form an embryo and ultimately a fetus and new human. Each cell contains the exact same genetic material as the original 48 chromosomes, carrying the same genes and DNA.

In patients with Down Syndrome, an error occurs in the coming together of chromosome 21. The extra genetic material is responsible for the developmental abnormalities that occur. Instead of 46 chromosomes plus two sex chromosomes, there are 47.

What Is The Treatment For Down Syndrome?

Providing support and treatment for a patient with Down Syndrome is meant to improve their quality of life.

Infants with Down Syndrome may experience developmental delays including time to sit, crawl, walk, and talk so parents need to know fhat developmental delays are common in children with Down Syndrome. Using a team approach to care, physical therapists, occupational therapists, and speech therapists may help improve language, motor, and social skills to the maximum achievable by the individual person.

Medical conditions associated with Down Syndrome, including those affecting the heart or the gastrointestinal system, may require evaluation and care, sometimes requiring surgery.

As the patient ages, the care and support needed will depend upon the intellectual ability and physical function achievable by the individual.

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Foundation For Special People
10024 S. Western Avenue
Los Angeles, California 90047

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