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Complete Guide to Down Syndrome Symptoms, Causes, and More

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Down syndrome is a genetic condition caused by an extra copy of chromosome 21. This happens when a cell divides in a way that isn't supposed to happen. Because of this extra genetic material, people with Down syndrome features have certain mental and physical traits.

What are the warning signs and symptoms of Down syndrome?

Every person with Down syndrome has a different combination of physical and mental symptoms. Some specific Down syndrome symptoms are often associated with people who have this disease, including the following: 

  1. Tiny ears 
  2. Eyes that are angled upward at the outside corner
  3. Flat noses
  4. The pigmented portion of the eyes has little white dots here and there
  5. Protruding tongue
  6. Hands and feet of a small size
  7. A shortened neck

Most persons with Down syndrome don't have any additional health problems, although this is not always the case. Common concerns include cardiac problems and difficulties in hearing and seeing. Some of the potential symptoms of Down syndrome related to learning and development deficits are:

  1. Lack of progress in speech and language skills
  2. Struggle to go to sleep
  3. Difficulty focusing and paying attention
  4. A delay in learning how to use the toilet
  5. Weaknesses in thinking that are only mild to moderate in severity

What are the causes of Down syndrome?

An extra chromosome is the cause of Down syndrome. The average human cell has 46 chromosomes. Abnormalities in the division of cells on chromosome 21 lead to the development of Down syndrome. Some or all of a person's cells will include an extra copy of chromosome 21 if they have Down syndrome. 

A kid with Down syndrome often has an additional copy of chromosome 21, making their chromosomal count 47 rather than 46. This extra chromosome 21 copy seldom combines with another. Down syndrome is caused by this excess genetic material, which manifests in several physical traits and a slow rate of development. There is no correlation between the presence or absence of a connection between the extra chromosome and the features.

Different types of Down Syndrome

There are three distinct forms of Down syndrome, which are as follows:

  1. Trisomy 21 is a type in which every cell has three copies of chromosome 21 rather than two, which is the most prevalent.
  2. Mosaic is the most uncommon, occurring in a small percentage of cells with an extra copy of chromosome 21.
  3. Translocation Down syndrome means, in this form, each cell has either a portion of an additional chromosome 21 or a whole additional chromosome. Thus, it is not free-floating but instead joined to another chromosome.

The appearance of a person with Down syndrome does not indicate the specific kind of disorder they have. While all three kinds of Down syndrome have comparable consequences, a person with mosaic Down syndrome can have milder symptoms since the extra chromosome is present in fewer of their cells.

Difficulties associated with Down syndrome

Infants with Down syndrome often need surgery to correct a congenital heart abnormality. In addition to this, there is an increased chance of developing autoimmune illnesses, an increase in the incidence of paediatric leukaemia, and an increased risk of dementia in persons over the age of 50. Those with Down syndrome are more likely to be overweight and have lower muscular tone.

Conclusion

It might take some time for the new parents to adjust to having a kid with Down syndrome. Parents with a child with Down syndrome may feel extra pressure to prioritize their kid's growth, even at the expense of their other children. It's essential to take the time to get to know your kid as an individual and to remember that, like any youngster, they will need plenty of parental care and guidance from a doctor at Livlong.


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