Down Syndrome

What is Down Syndrome?

Down syndrome is a genetic condition that occurs when an individual has an extra copy of chromosome 21, also known as trisomy 21. This additional genetic material alters developmental processes and leads to the characteristics associated with the condition.

The prevalence of Down syndrome is approximately 1 in every 700 live births in the United States, making it the most common chromosomal condition.

Characteristics of Down Syndrome

Individuals with Down syndrome may exhibit a variety of physical, cognitive, and social characteristics, including:

Physical Features: Flattened facial profile, almond-shaped eyes, a short neck, and small hands and feet.

Developmental Delays: Delays in motor skills, speech, and intellectual development, ranging from mild to moderate.

Health Concerns: Increased risk for certain medical conditions such as congenital heart defects, hearing loss, vision problems, and thyroid disorders.

Causes and Diagnosis

Down syndrome is typically caused by an error in cell division during early development. This can result in:

Trisomy 21: The most common form, where every cell in the body has an extra chromosome 21.

Mosaic Down Syndrome: A rare form where some cells have an extra chromosome, while others do not.

Translocation Down Syndrome: Occurs when an extra part or whole chromosome 21 is attached to another chromosome.

Down syndrome can be diagnosed during pregnancy through screening and diagnostic tests, or after birth through physical examination and chromosomal analysis.

Early Intervention and Support

Early intervention is crucial for individuals with Down syndrome to achieve their full potential. Services such as speech therapy, occupational therapy, and physical therapy can help address developmental delays. Additionally, inclusive educational programs and community support groups play a significant role in promoting independence and quality of life.

Advocacy and Awareness

Brilliant Divergent Foundation works tirelessly to support individuals with Down syndrome and their families with groups who advocate for improved healthcare, education, and employment opportunities while promoting a message of acceptance and inclusion.

Resources for Further Information

National Down Syndrome Society (NDSS): www.ndss.org

Centers for Disease Control and Prevention (CDC): www.cdc.gov/ncbddd/birthdefects/downsyndrome.html

Global Down Syndrome Foundation: www.globaldownsyndrome.org