Health and Fitness

Down syndrome- Symptoms, Types, Causes and treatment

Down syndrome is a genetic medical disorder caused due to the abnormal cell division that results in an extra full or partial copy that is similar to chromosome 21. The extra chromosome or the extra genetic material leads to the developmental changes and physical features of down syndrome.

Medical terms for Down syndrome

Down syndrome is also often known as Down’s syndrome, or trisomy 21. This sometimes may be a serious medical condition in which an affected child is born with an extra copy of 21st chromosome. This may cause delay in physical and mental developmental delays and disabilities.

While some disabilities may be life long, they may also shorten life expectancy. But, fortunately what is positive is that people with Down syndrome can still live a healthy and happy life. With the advancement of technology, medical equipment has also advances along with treatment procedure, apart from the medical assistance cultural and institutional support is also available to the people is also available all round the world.

Causes of Down syndrome

In people suffering from Down syndrome problem actually occurs in the coming together of chromosome 21. The actual cause of Down syndrome can be understood from here in each and every reproduction; both parents transfer or pass their genes on to their children, these genes automatically are carried in chromosomes. When the potential baby’s cell develops, each cell receives 23 pairs of chromosome, taking the total count of 46 chromosomes. It is already understandable that half of the chromosomes are from mother, and half from the father.

Now what happens with children with Down’s syndrome is that one of the chromosomes doesn’t separate properly. The potential baby either ends with three copies, or an extra partial copy of chromosome 21, instead of two. And this is where the problem lays the extra chromosome delays the brain and physical development.

Signs and symptoms of Down syndrome

Some of the common signs and symptoms of Down syndrome are:

  • Short neck with a short, stocky physical size
  • Poor or bad muscle tone
  • Small ears
  • Flattened facial features
  • Almond- shaped eyes that slant upward
  • Small or tiny hands and feet
  • Delays in speech and language development
  • Sleep difficulties
  • Concentration and attention problems
  • Delayed or late toilet training
  • Stubbornness

Types of Down’s syndrome

  • Trisomy 21: Trisomy 21 indicates an extra copy of chromosome 21 in every cell. The most common form of Down’s syndrome is trisomy 21.
  • Mosaicism: The condition occurs when a child is born with an extra chromosome in some cell but not all of their cells. Usually people with Mosaicism have fewer symptoms than those in trisomy 21.
  • Translocation: In case of translocation children have only an extra part of chromosome 21. There are in total 46 chromosomes; however in this case one of them has an extra piece of chromosome 21 attached.

Can the underlying medical condition be treated?

Yes, however screening for Down syndrome requires regular screening as a routine part of prenatal care. The Down syndrome may be diagnosed by a doctor looking at its appearance. It is diagnosed by a blood test called karyotype test that lines up the chromosomes and will detect if there’s an extra chromosome 21.

Routine test during pregnancy can also check if your baby is likely to suffer with Down syndrome. If the chances to have a baby with Down syndrome are at high risk your doctor may advise you several other tests to confirm the situation.

Complications related to this health condition

A baby with this problem is likely to be more prone to other health conditions that might be serious or can lower life expectancy. Some of the complications are:

  • Heart defects
  • Gastrointestinal defects
  • Immune disorders
  • Spinal problems
  • Leukemia
  • Dementia, or
  • Other problems such as seizures, dental problems, ear problems or vision problems.

Related Articles

Leave a Reply

Your email address will not be published. Required fields are marked *

Back to top button