Extra chromosome causes developmental challenges in Down syndrome

Down syndrome is a genetic disorder caused by having an extra chromosome 21. This condition affects how the brain and body develop. People with Down syndrome often experience cognitive delays, specific physical traits, and various health challenges. Every year on March 21, World Down Syndrome Day raises awareness of this condition. Down syndrome occurs due to abnormal cell division, which leads to either a full or partial extra chromosome. It is the most common genetic disorder, affecting about 1 in every 5,700 newborns in the United States. Ongoing research is crucial to better understand this disorder and to improve support for those affected. Dr. Himani Narula Khanna is a pediatrician who specializes in developmental and behavioral health. She explains that Down syndrome is primarily caused by having three copies of chromosome 21, known as Trisomy 21. In a typical human body, there are 46 chromosomes in 23 pairs. The presence of the extra chromosome leads to a total of 47. This extra genetic material disrupts normal biological processes and developmental pathways. The impact of Down syndrome on brain development is significant. Changes in brain structure can lead to delays in cognitive functions and learning. Areas such as the hippocampus, which is important for memory, and the cerebellum, which controls coordination, are often affected. Individuals with Down syndrome also face a higher risk of developing Alzheimer's disease early in life due to a gene on chromosome 21. Physically, people with Down syndrome tend to show distinct features, such as a flat facial shape, slanted eyes, and low muscle tone. These characteristics can result in delays in motor skills, such as sitting, standing, and walking. Additionally, children with Down syndrome often grow to be shorter than their peers. Despite these challenges, proper medical care and educational resources can significantly enhance their quality of life. Research continues to explore new ways to help individuals with Down syndrome. Increasing social awareness and understanding can lead to a more supportive society for people with this condition.