Down syndrome is named after the physician Langdon Down, who was the first to notice the disease. It affects not only physical but also mental characteristics. One of the disease’s side effects is mental retardation. In addition to all of this, they are vulnerable to diseases such as leukaemia (a type of blood cancer) and Alzheimer’s. Unfortunately, there is no cure for the disorder of down syndrome. However, the quality of life can be improved by taking extra precautions and offering training to individuals so that they can perform better in regular tasks. It’s worth noting that down syndrome can be detected during early stages of pregnancy, which can help to reduce the disease’s prevalence.
What is Down Syndrome and how does it affect you
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Did you know that one in every 700 pregnancies has a child with Down syndrome? According to research, the older a mother gets, the more likely she is to have a kid with Down syndrome. However, several other elements are thought to be involved in the development of this illness. Understandably, this is an important topic that every Biology student should be familiar with.
Continue reading to learn more about Down syndrome symptoms, characteristics and types!
Down syndrome is a chromosomal condition in which an error in cell division results in an extra copy of chromosomes in the body, according to the definition.
Affected people’s physical and cognitive capacities are harmed by the additional chromosome 21.
Individuals with Down syndrome are also at a higher risk of developing a variety of health problems. It is important to note that it is not a sickness, but rather a phrase that best characterises the symptoms that emerge as a result of it.
On that point, let’s look into the many forms of Down syndrome and how they differ.
Down Syndrome Varieties
Down syndrome is classified into three categories.21.
It accounts for over 95% of all instances and is the most prevalent of the three types.
The uneven separation of chromosome 21 during meiosis in egg cells or sperm is the most common cause. Each cell in the body receives an extra copy of this chromosome when the fertilised egg develops.
Translocation
It represents 4% of the overall number of cases. It’s worth noting that the extra chromosome gets transferred to new cells in this case in a unique way.
It only happens when a large chunk of chromosome 21 breaks off and attaches to another chromosome during replication. This results in a cell with 46 chromosomes and an additional chromosome 21, as seen below.
Mosaicism
Only 1% of all instances are of this sort. Notably, the separation mistake occurs shortly after the egg has been fertilised in this manner.
The importance of time stands out the most. Mosaic Down syndrome symptoms are also less noticeable because not all cells have an extra chromosome.
Down Syndrome Treatment
Early childhood care, screening for common problems and medical treatment where required, a strong home environment, and work-related training can all help children with Down syndrome develop more effectively. The entire quality of life has been shown to be improved by education and adequate care. A parent must accept the obstacles and accept the fact that having a child with Down syndrome is more work than raising a child without the condition. Aside from the methods outlined above, standard childhood vaccines are suggested.
Screening for Disease
Health groups have overwhelmingly advocated that people with Down syndrome be screened for specific disorders so that they can receive sufficient medical care.
All children with Down syndrome should have an electrocardiogram and a cardiac ultrasound performed when they are born. Surgical intervention for the treatment of heart issues may be necessary in many circumstances (as early as three months of age). Adult patients may develop cardiac valve abnormalities, necessitating a second ultrasound examination in teenagers and young adults. Because of the increased risk of testicular cancer, some doctors advise male patients to get their testicles examined once a year.
Down Syndrome and Cognitive Development
Hearing aids or other amplification equipment have been found to help people with hearing loss learn languages. It is advised that training and speech therapy begin as soon as feasible (around nine months of age).
Before reaching school age, enrolling in educational activities to aid learning and social interaction may be beneficial. Children diagnosed with Down syndrome who are of school-going age can benefit from inclusive education (in which children of varying abilities are placed in classes alongside their classmates of the same age), given that some curricular adaptations are made to suit their unique requirements. However, the evidence for this appears to be insufficient. The Individuals with Disabilities Education Act of 1975 requires public schools in the United States to allow students with Down syndrome to attend and to foster a more inclusive attitude for people with disabilities.
Visual tools help people with Down syndrome learn more effectively. Although children with Down syndrome may continue to struggle with sentence structure and grammar, as well as their ability to speak coherently, early intervention can aid cognitive growth. Physical treatment, speech and language therapy, and occupational therapy can all help to improve motor abilities. Physical therapy focuses mostly on motor development and teaching children how to interact with their surroundings. Speech and language therapy aids in the development of linguistic ability. Finally, occupational therapy can aid in the development of skills necessary for later life independence.
Conclusion
When asked what causes down syndrome, he replied, “I don’t know.” The chromosomal abnormality caused by autosomal aneuploidy is one of the most basic causes of down syndrome. The illness is present in one out of every 1800 live births. It is observed to be more common in cases where the mother is over 35 years old.