Down’s Syndrome Let's Learn More About The Causes, Symptoms, Diagnosis And Treatment

Down’s Syndrome: Let’s Learn More About The Causes, Symptoms, Diagnosis And Treatment

Last Updated: 24th July, 2022

Down’s Syndrome (DS) is one of the main reasons of intellectual disability in children over the globe. As indicated by 2016 research revealed in the Journal of Neurosciences in Rural Practice, it represents around 15-20% of intellectual disability on the planet. A survey of 94,910 babies in three metropolitan urban areas of India uncovered that the recurrence of Down’s Syndrome was one for each 1150.

It is a typical genetic condition in which a baby is born with an additional duplicate of chromosome 21, thus otherwise called trisomy 21. Individuals with Down’s Syndrome experience the ill effects of developmental disabilities as well as vulnerable to different chronic disorders, diseases and physical in-capacities.


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21st March is seen as World Down’s Syndrome Day consistently to bring general awareness to light about the genetic condition.

How about we learn more about the causes, symptoms, diagnosis, and treatment about Down’s Syndrome everybody should know about.

What Causes Down’s Syndrome?

Chromosomes carry genes, which are passed from generations to their children amid the reproduction process. In general, there are 23 pairs of chromosomes in an individual and amid the reproduction process, every cell gets 23 chromosomes from either parent which makes it a total set of 23 pairs in a kid.

Be that as it may, in children with Down’s syndrome, one of the chromosomes misses the mark to set apart normally. This makes the infant be born with three duplicates of chromosome 21 rather than two. It is because of this additional duplicate of chromosome 21 that a kid develops a physical and developmental disorder.


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Down’s syndrome can be classified into three main categories.

Trisomy: In this, there is an additional duplicate of Chromosome 21 in each cell, which implies there are three total duplicates of Chromosome 21 in every one of the cells. It is the most wide recognized type and records for 95% of the complete instances of Down’s syndrome.

Translocation: This sort of Down’s syndrome represents 3% of the considerable number of instances of Down’s syndrome. In this, rather than the whole chromosome, there is a piece of Chromosome 21 that is attached.

Mosaic: This kind of Down’s syndrome is less pervasive and represents and 2% of the cases. In this, the child is born with an additional pair of Chromosome 21 in a few and not all cells. This is the reason, why children with Mosaic Down’s syndrome show less manifestations when contrasted with different types.

A few of the general physical features which are typical symptoms for Down's syndrome are

Down’s Syndrome: What Is The Risk?

Doctors don’t have a clue yet what precisely originates chromosomal deviation or if there is a connection between the environmental factors and Down’s syndrome. In any case, there are surely factors which are known to trigger the danger of a kid being born with a Down’s syndrome. These are:

Mothers Older Than 35 Years: In accordance with the Centers for Disease Control and Prevention (CDC), women who are aged 35 years and more are at a higher hazard to give birth to a child with Down’s syndrome when contrasted with younger women. The hazard increments with the age of the women in their first pregnancy.

Father’s Age: A recent report has uncovered that fatherly age has an impact on the danger of Down’s syndrome. According to the research, men over 40 years old were twice liable to father a kid with the condition when contrasted with younger men.


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Family History: On the off chance that you have a family ancestry of Down’s syndrome, which implies both of your parents or kin have Down’s syndrome, the odds of your child to experience the ill effects of the condition is high. Likewise, in the event that you have a child with Down’s syndrome, at that point the odds of having a second kid with the condition are additionally higher.

What Are The Symptoms Of Down’s Syndrome?

Not at all like other health conditions, a woman who is pregnant with Down’s syndrome may not encounter any kind of signs and symptoms. The reason being, it is a typical genetic condition and can only be found in a child with the condition. Nonetheless, there are sure tests that can distinguish the odds of a child experiencing chromosomal deformities from the norm in the womb.

A few of the general physical features which are typical symptoms for Down’s syndrome are:

  • Flat facial features, especially the nose
  • Eyes, which are shaped like almonds and slant upwards
  • Small head
  • Short neck
  • Bulging tongue
  • Small ears which are folded a bit at the top
  • Small hands and feet
  • Short fingers
  • Low muscle tone
  • Short height
  • Developmental delays (mild to moderate)

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Children with Down’s syndrome are frequently of a similar size as different infants, however, will in general develop at a much slower pace. Additionally, they likewise experience trouble in mental health which influences their capacity to think, reasoning, comprehend, and to n social. As they grow older, they are bound to experience the ill effects of certain health issues, for example:

  • Heart disease
  • Sleep apnea
  • Hearing loss
  • Vision problems
  • Dementia
  • Infections
  • Anemia
  • Thyroid problems

How To Diagnose Down’s Syndrome?

Sure, there are screening tests which can recognize Down’s syndrome in the developing fetus. These tests are typically suggested amid pregnancy, be that as it may, it is an unquestionable requirement for pregnant women over 35 years of age, also if the father is over 40 years or if there is a family ancestry of Down’s syndrome.

Amid the first trimester of pregnancy, an ultrasound (Urine Specific Gravity) and blood tests are encouraged amid this phase to distinguish the condition. Though amid the second trimester, an ultrasound (USG) and fourfold marker test are prescribed to recognize absconds in the spinal cord and brain. Any deformities from the norm in these tests can show an expanded danger of birth defects.

21st March is seen as World Down's Syndrome Day consistently to bring general awareness to light about the genetic condition.

Furthermore, pre-birth tests that are encouraged to diagnose Down’s disorder include:

Amniocentesis: This test is done after the initial 15 weeks of pregnancy. Here, a sample of amniotic fluid is collected to look at the chromosomal count of the baby.


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Chorionic Villus Sampling (CVS): The test is normally done between 9th to the 14th week stretch of pregnancy. In this, cells are collected from the placenta to analyze fetal chromosomes. The test is known to somewhat build the danger of miscarriage. Converse with your doctor to know the upsides and downsides of the considerable number of tests before experiencing these tests.

When the baby is born, an orderly physical examination of the infant is done. Also, your doctor may suggest a blood test widely known as karyotyping to affirm Down’s syndrome.

Down’s Syndrome: How To Get It Treated?

Down’s syndrome is clearly a genetic disorder which implies that it is a lifetime condition and can’t be treated or cured as of now. In any case, because of the latest advances in the treatment and research, there have been situations where the quality of life of an individual with Down’s syndrome has become better than before.

Kids with the condition be unsuccessful in to meet the developmental achievements, particularly the psychological capacities, which makes them moderate students. Subsequently, treatments which go to enhancing the intellectual abilities and building social abilities are prescribed. These incorporate particular training programs and coordinated classrooms alongside love, care and support from the loved ones.


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You can even connect with communities which helps in making the life of an individual with Down’s syndrome somewhat simpler. It is additionally required to create a solid association with doctors and intently monitor their health condition as they are in danger of different medical/health issues, infections and diseases.

With the present treatment possibilities, the life expectancy of an individual with the condition has achieved an overall of 50 years. Keep in mind that with appropriate support and care, individuals with Down’s syndrome can carry on with a more drawn out and a better life.

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