A Brief Knowledge About Down Syndrome

Down syndrome is a genetic condition that causes a variety of physical and mental problems. The existence of an additional chromosome 21, commonly known as trisomy of chromosome 21, is the cause. Down syndrome is one of the world’s main causes of genetic abnormalities.

It was named after the physician Langdon Down, who was the first to notice the problem.

Aside from physical characteristics and mental retardation, they are also susceptible to diseases such as leukaemia and Alzheimer’s. There is no treatment; nevertheless, the individual’s quality of life can be improved by taking extra precautions and educating them to conduct daily chores. Down syndrome can be detected through early prenatal screening, which can help to reduce the disease’s occurrence.

Down Syndrome Varieties

Down syndrome is classified into three categories.

1.Trisomy 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.

2.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.

The Characteristics of Down Syndrome

Here are a few characteristics of Down syndrome —

Aspects of the Physical

• a short neck and a small stature
• Nose bridge that is flat
• muscular tone that is weak
• Upward-slanting eyes
• On the top eyelid, there’s an extra fold.
• Between the big and second toes, there’s a big chasm.

Aspects of the Mind

• Mild to moderate intellectual disabilities exist.
• Learning to talk after a long time
• Motor skills are delayed
• Attention deficit disorder

Apart from these, people with Down syndrome are at risk for health issues such as congenital heart disease, epilepsy, respiratory problems, hearing loss, leukaemia, Alzheimer’s disease, thyroid disease, and so on.

A screening test and other prescribed diagnostic procedures can be used to identify this aberration.

Down syndrome treatment

Early childhood care, screening for common problems and medical treatment as needed, a strong home environment, and work-related training can all help children with Down syndrome develop more successfully. 

Education and adequate care are believed to increase overall life quality. A parent must accept the difficulties and accept the fact that raising a child with Down syndrome requires more effort than raising a child without the condition. Vaccinations for children are advised in addition to the steps listed above.

Medical Exams

Health groups have widely advocated that people with Down syndrome be screened for specific disorders so that they can receive appropriate medical treatment.

An ECG and a cardiac ultrasound are recommended for all children with Down syndrome at the time of birth. Heart issues may necessitate surgical intervention in several circumstances (as early as three months of age). 

Heart valve abnormalities can emerge in adult patients, thus a thorough ultrasound examination is required in teens and young adults. Some doctors advise male patients to get their testicles examined every year due to the increased risk of testicular cancer.

Down Syndrome Children’s Mental Growth

Hearing aids or other amplification equipment have been demonstrated to be beneficial in the learning of languages by persons with hearing loss. It is recommended to begin training and speech treatment as soon as feasible (around nine months of age).

Enrolling in educational programmes to help with learning and social interaction before entering school could be beneficial. Children diagnosed with Down syndrome who are of school-going age can benefit from inclusive education (in which kids of varying abilities are placed in classrooms with their classmates of the same age) if the curriculum is adjusted to meet their specific requirements. 

However, the evidence appears to be inconclusive. In the United States, public schools are obligated by the Individuals with Disabilities Education Act of 1975 to allow students with Down syndrome to attend and to foster a more inclusive ethos for people with disabilities.

Conclusion

Visual aids are more effective for those with Down syndrome. Although children with Down syndrome may still have trouble forming sentence structure and grammar, as well as speaking clearly, early assistance can aid cognitive growth. Physical treatment, speech and language therapy, and occupational therapy can all help people improve their motor abilities. Physical therapy focuses on motor development and teaching kids how to connect with their surroundings. Speech and language therapy aids in the development of linguistic skills. Finally, occupational therapy can be used to assist with the development of skills necessary for later life independence.