Introduction
The down syndrome is a genetic disorder that affects more than 350,000 people and their families across the United States. It is one of the most common birth defects and is caused by a random error in the chromosomes. About one in 691 babies are born with Down syndrome, making it the most commonly occurring chromosomal condition in the United States. Down syndrome is also known as Trisomy 21.
Down syndrome causes a wide range of physical, mental and social delays that can range from mild to severe. Most people with Down syndrome are capable of learning and participating in society, as well as enjoying meaningful relationships. In recent years there have been significant advances in Down syndrome research, treatments, therapies and understanding.
History
The first recorded case of Down syndrome occurred in 1798. The syndrome was named after the British physician, John Langdon Down, who in 1866 published a paper suggesting that it was a distinct type of mental retardation.
At the time, individuals with Down syndrome were often institutionalized and treated inhumanely. Even into the 1940s and 50s, there was a general misunderstanding about the causes of the syndrome, leading to fear and lack of acceptance of those affected.
In 1959, French geneticist Dr. Jeane Lejeune established that Down syndrome occurred due to a chromosome abnormality, specifically an extra copy of the 21st chromosome. This discovery marked a major breakthrough in the field.
Causes
Down syndrome is caused by an extra chromosome. Normally, cells in the body contain 23 pairs of chromosomes, with each pair containing one chromosome from the father and one from the mother. With Down syndrome, a cell contains 24 chromosomes, and the extra chromosome is designated as chromosome 21.
In 95% of cases, the extra chromosome 21 is due to a chromosomal abnormality known as trisomy. In the remaining 5% of cases, the defect is due to an inherited problem, known as mosaicism.
Symptoms
Down syndrome can cause a wide range of physical, mental and social delays, which can range from mild to severe. Common physical features of Down syndrome include a flat facial profile, small head and ears, upward slanting eyes, and a short neck.
In terms of mental and social delays, many people with Down syndrome exhibit a degree of learning disability and have delayed speech and language development. Other common mental and social delays can include delayed motor development and cognitive abilities, sensory deficits, anxiety, and difficulties with coordination and balance.
Diagnosis and Treatment
Although Down syndrome can be diagnosed after birth, many pregnant women choose to take prenatal tests to screen for the genetic disorder. These tests take the form of either a blood test or an ultrasound.
Once diagnosed, medical specialists will work to treat any health issues arising from the condition. This may involve developing an individual physical and educational plan, as well as providing access to other treatments and therapies.
Conclusion
Down syndrome is one of the most common birth defects and is caused by an extra copy of the 21st chromosome. It can cause a wide range of physical, mental, and social delays that can range from mild to severe. In recent years there have been significant advances in Down syndrome research, treatments, therapies and understanding. Prenatal screenings can help detect the condition, allowing for earlier intervention and treatment.
