Down Syndrome

Down syndrome or Down’s syndrome is the defect in the child who is born with an additional copy of their 21st chromosome, therefore it is also called ‘trisomy 21’. This syndrome has impacts on the development of the child which is physically as well as mentally.

People with Down syndrome have a short life expectancy, many life-long disabilities, while some may live healthy and fulfilling lives.

Causes of the Down syndrome

As we all know that it is chromosomal defects, and it’s the time when parents transfer their genes onto the children. These genes are held in the chromosomes, and then later when the baby cell starts growing and dividing, each of them is expected to have 23 pairs of 46 chromosomes in all, where half of the chromosomes are from the father and half from the mother.

Though children with Down syndrome, have three copies or an extra copy of 21st chromosomes, instead of two. This happens because, one of the chromosomes doesn’t separate properly, thus resulting in the extra partial copy of that chromosome. This additional chromosome causes major issues in the development of physical appearance and brain as well.

Types of Down syndrome

Commonly three types of Down syndrome are there, which are – Trisomy 21, Mosaicism, Translocation.

Trisomy 21

When there is an extra copy of chromosome number 21 in every cell of the body, this is known as Trisomy. It is the most common of the three types.

Mosaicism

There are chances when the baby is born with an extra chromosome in few cells of his or her body rather than having this extra one in all the cells. Peoples with such conditions show fewer symptoms as compared to trisomy 21.

Translocation

In this syndrome, one additional piece of chromosome 21 is attached, apart from the normal 46 chromosomes.

Chances of the newborn will take birth with the Down syndrome

There are some parents who are at higher risk of giving birth to a child with this syndrome. As per the research, mothers aged 35 or more are likely to give birth to a child with Down syndrome. The chances increase with the more aged parents.

Even more, one of the studies reveals that if the paternal age is beyond 40 years, the risk of getting Down syndrome in the child gets double.

Symptoms of Down syndrome

Nowadays, a baby with Down syndrome is easy to screen, during the pregnancy, although the expecting mothers do not feel any particular symptoms and so it is tested by performing a specific type of test.

But, a child with Down syndrome has the following characteristics in common:

  • Bulging tongue.
  • Small head and ears.
  • Flat facial features.
  • Short neck.
  • Eyes that slant upward.
  • Atypically shaped ears.
  • Weak muscle tone.
  • Slow growth rate since birth, though born at an average size.

Such people, which are suffering from Down syndrome have the retarded mental growth up to some extent, this may delay social and mental development, leading to

  • Poor judgment.
  • Impulsive behavior
  • Poor learning capabilities.
  • Short attention span.

Medical complication

  • Hearing loss.
  • Eye cataracts
  • Poor vision.
  • Heart defects.
  • Obesity.
  • Chronic constipation.
  • Leukemia.
  • Alzheimer’s disease.
  • Late growth of a tooth.
  • Hypothyroidism.
  • Dementia (memory problems).
  • Hip problems (dislocations).
  • Prone to infections (such as liver, kidney, skin, and urinary tract infections).

Screening during Pregnancy

These days with the latest technology it is possible to know about the child’s physical appearance as prenatal care by screening the Down syndrome. If the conceiving mother is above the age of 35 and the baby’s father is above 40 years or if there is a family history related to Down syndrome, one can undergo the evaluation.

Treatment

Although till date, there is no such cure for Down Syndrome, but numerous programs and education regarding this syndrome and how to deal with such people are highly beneficial for the child and their family members. Special education and therapy will enhance the child’s – sensory skills, self-help skills, social skills, language and cognitive skills, and motor skills as well.

These children have the intellectual ability, but as we all know that school is a vital part of one’s life, so there is numerous private education society supporting these children and their families as well, with special teaching methods and positive environment. So, life skills building will e possible with these schools no matter, how special ability the child has.

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