Down Syndrome: Causes, Symptoms & Treatment


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What is Down syndrome?

A genetic disorder, Down syndrome is a chromosomal abnormality in certain people which causes:

  • intellectual disability
  • cognitive disabilities
  • physical growth delays
  • characteristic facial features
  • digestive issues such as blockage of intestines
  • heart defects
  • hearing or vision problems
  • thyroid problems (specifically, hypothyroidism, which affects about 15% of the down syndrome patients)


Most of these disabilities last lifelong and can also threaten life expectancy. However, these days with advances in medical science, support networks, and more understanding of this disorder people with Down syndrome along with their families can successfully navigate through the challenges posed by this condition. 

What are the causes of Down syndrome?

When a baby’s cells develop each cell receives 23 pairs of chromosomes, i.e. a total of 46 chromosomes, half from the mother and half from the father. People with Down syndrome have an extra chromosome i.e. a total of 47 chromosomes. Medical experts are not sure why this occurs. 

No link has been established so far between the environment (such as lifestyle, including diet) and the extra chromosome or the parents from whom the child receives the genes.  

What are the symptoms of Down syndrome? 

People with down syndrome display certain physical characteristics such as:

  • short neck which also appears rather flat with excess skin at the back
  • eyes slant upwards a bit and are almond shaped
  • the outer part of the iris in the eyes might have light spots that are called Brushfield spots
  • bridge of the nose is small which gives the impression of a button and broad nose
  • small ears and head
  • flattened facial profile
  • short and chubby fingers
  • short hands
  • low and poor muscle tone which affects all the muscles in the body
  • A gap between the big toe and the rest of the toes

The cognitive and behavioural symptoms include:

  • problems with thinking
  • low attention span
  • poor decision making
  • impulsive behavior
  • slow learning
  • delayed language and speech development


The associated physical disorders that can affect people with Down syndrome include:

  • vision loss
  • hearing problems
  • digestive issues such as blockage of intestines
  • heart defects
  • thyroid problems (hypothyroidism, which affects about 15% of the down syndrome patients)
  • frequent infections due to problems in the immune system
  • blood disorders (children with down syndrome are much more likely to get leukemia)
  • obstructive sleep apnea
  • gum diseases
  • epilepsy
  • mental health and emotional problems
  • celiac disease
  • Some children may suffer from misshapen bones in the upper part of the spine

How is Down syndrome diagnosed?

Doctors can check for Down syndrome during pregnancy or after the baby is born. The following tests are usually recommended by doctors:

  • Prenatal tests: These tests include:
    • Blood tests
    • Ultrasound
    • Combination of blood tests and ultrasound

These tests are done during the first and second trimester of pregnancy and are screening tests, which can estimate the risk you have of having a baby with Down syndrome. A blood test will help to determine certain markers in the mother’s blood, for example, certain proteins, that signal the likelihood of Down syndrome. An ultrasound is able to detect fluid at the back of a fetus's neck, that can sometimes indicate Down syndrome.
The tests though cannot for sure indicate whether your baby has or does not have Down's syndrome. They can just indicate how high your risk is.

There are diagnostic tests such as:


  • Amniocentesis: In this test, a sample of your amniotic fluid is drawn using a needle which is inserted into your uterus. This sample is tested for the extra chromosome which causes Down syndrome. This test is usually performed after 15 weeks of pregnancy. The risk of miscarriage associated with this test is very low.

  • Chorionic villus sampling (CVS): In this test, some cells are taken from your placenta and sent to the lab to test the fetal chromosomes and find out if there is an extra chromosome. This test is performed between 10 and 13 weeks of pregnancy and the risk of miscarriage associated with this test is very low.

  • Chromosomal testing of maternal blood: This test involves drawing blood from a pregnant woman and performing a chromosomal test which may detect the extra chromosome, as the mother’s blood contains the DNA of the fetus. This test can be followed by a more invasive test to confirm the findings.

  • Diagnosis after birth: Diagnosis of Down syndrome after the birth of a baby is based on the physical appearance of the baby and a blood test which is done to analyze the child’s chromosomes.

What are the complications of Down syndrome?

The complications that people with Down syndrome may experience include:

  • vision loss
  • hearing problems
  • digestive issues such as blockage of intestines
  • heart defects
  • thyroid problems (hypothyroidism, which affects about 15% of the down syndrome patients)
  • frequent infections due to problems in the immune system
  • blood disorders (children with down syndrome are much more likely to get leukemia)
  • obstructive sleep apnea
  • gum diseases
  • epilepsy
  • mental health and emotional problems
  • celiac disease
  • some children may suffer from misshapen bones in the upper part of the spine
  • dementia
  • early menopause in women
  • seizures
  • skin problems such as psoriasis
  • skeletal problems


What is the treatment of Down syndrome?

Medical Treatment for Down Syndrome 

Early intervention is required for Down syndrome since people suffering from this condition are at a greater risk of suffering from various health issues compared to people who do not suffer from this condition. In fact, most of the associated conditions may require medical intervention right after birth, throughout adolescence right into adulthood. 

For instance, an infant born with Down syndrome may require a heart surgery immediately after birth if he/she is born with a heart defect. Or if the infant suffers from any particular digestive issues he/she may need to take a specific form of diet coupled with the necessary treatment. 

Earlier the life expectancy of children with Down syndrome was low, but now with the advances in medical sciences infants with Down syndrome can live upto the age of 60 years or more with the right kind of support network, timely medical treatment, and other assistive devices. 

Medical treatment for Down syndrome will depend on the kind of issues the patient suffers from. On the whole from time to time a person with Down syndrome may require the specialized services of a:  


  • pediatrician
  • pediatric cardiologist
  • pediatric gastroenterologist
  • pediatric endocrinologist
  • pediatric ophthalmologist
  • speech therapist
  • physical therapist
  • occupational therapist
  • pediatric neurologist
  • pediatric ear, nose, and throat (ENT) specialist

Exercise

Studies indicate that people with Down syndrome are less inclined to exercise mostly due to low muscle tone. In fact, they seem to have less capacity for cardiovascular and muscular exercises.  

Though, existing data also shows that exercising is beneficial for gradually increasing the exercise capacity and physiological functions in people with Down syndrome. If you have a family member who suffers from Down syndrome it would be beneficial to consult a doctor and find out what kind of exercises will suit him/her the most and then make sure the family member follows an exercise regimen. 

Would you like to consult a doctor for Down Syndrome ?

Questions answered by trusted doctors

Verified User
Will down syndrome be treated completely. Need to know best doctor or hospital in Bangalore for treatment.
Dr. Mohammed Reyazuddin
Neuropsychiatrist, Aligarh
There is no Cure for Dwon syndrome..
Only rehabilitation and symptomatic treatment..Consult in Psychiatry department of any Medical college.
Verified User
I am on a 6th month pregnancy, & I haven't performed one test known as Down syndrome Test or Triple marker test. Need your advice whether I should perform the test or not?
Dr. Rekha Anand
Gynecologist, Navi Mumbai
Triple marker test can be done upto 20wks only.it can't be performed now.
Verified User
My newborn baby having
extra finger
simian crease in both hands
My 5 months anamoly scan EIF found
All these concern for down syndrome??
Paediatrician visited during my delivery to check the baby but they didn't tell anything about DS...
In generally paediatricians will observe about DS when they check baby first time???
Are we need to consult which specialist Dr to confirm about DS??
Kindly suggest me... I'm really concerned about my newborn...
Dr. Pankaj Tule
Neonatologist, Navi Mumbai
Get a karyotyping down that will diagnose Secondly u must have done triple marker test during pregnancy That detects the risk for Down syndrome U will need a group of sub specialists if diagnosed
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Did you know?

Children with Down syndrome in India

23000 to 29000 children in India are born with Down syndrome which is the highest in the world.

Survival rate of children with Down syndrome

Survival rate is only 44 % for those who have a congenital heart disease.

Women over 35 years at a higher risk of having a baby with Down syndrome

A 25-year-old woman has a 1 in 1,200 chance of having a baby with Down syndrome; by 35, the risk has increased to 1 in 350; by age 40, to 1 in 100; and by 49, it's 1 in 10. Although the chance of a woman having a child with Down’s syndrome increases with age, 80% of children with Down’s syndrome are born to women under 35.

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