Write post response about a genetic disease:

DIRECTIONS

Share the most interesting thing you learned about the condition during your research.

Make sure you properly cite your peer-reviewed sources.

1. Name of the Genetic Condition:
2. Down Syndrome, or Trisomy 21, is a chromosomal/genetic disorder characterized by the presence of an extra copy of chromosome 21.

Clinical Manifestation: Down Syndrome has a wide range of clinical manifestations that affect individuals with the condition. These include intellectual disability, mild to moderate developmental delays, distinctive facial features (such as almond-shaped eyes and a flattened face), low muscle tone (hypotonia), heart defects, gastrointestinal issues, hearing and vision problems, short stature, and increased susceptibility to certain medical conditions like respiratory infections and thyroid problems. The severity of these manifestations can vary from person to person.

Frequency in the Population: Down Syndrome is one of the most prevalent genetic disorders, with an approximate frequency of 1 in 700 live birth (or 1%) in the United States. About 5,300 babies are born with Down Syndrome each year. The risk of Down Syndrome increases with maternal age, particularly in women over 35 years old.

Genetic Mutation: The primary genetic mutation responsible for Down Syndrome is trisomy 21, which means individuals with Down Syndrome have three copies of chromosome 21 instead of the typical two. This occurs due to nondisjunction during meiosis, where before or during conception, one of the two 21st chromosomes in either the sperm or the egg does not properly separate.

Treatments and Management: While there is no cure for Down Syndrome, individuals with this condition can benefit from various treatments and management options. These may include early intervention programs to support development and learning, speech therapy and physical therapy to improve communication and motor skills, occupational therapy, special education programs tailored to individual abilities, and medical management to address associated health issues like heart defects or respiratory infections. Many babies with Down Syndrome may even undergo surgery due to certain heart defects. Supportive services and resources are also available to help families and individuals with Down Syndrome. Ongoing medical care and therapy are essential to improving the quality of life for individuals with Down Syndrome.

Citations: 

MedlinePlus. Bethesda (MD): National Library of Medicine (US); Down Syndrome. https://medlineplus.gov/genetics/condition/down-syndrome/#synonym

Links to an external site.

Akhtar F, Bokhari SRA. Down Syndrome. In: StatPearls. Treasure Island (FL): StatPearls Publishing;  https://www.ncbi.nlm.nih.gov/books/NBK526016/