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Down Syndrome: Causes, Types, and Symptoms

26 September, 2020 Virali Mehta

Down Syndrome is a condition in which a child is said to have born with a duplicate of their 21st chromosome. Trisomy 21, another name for Down Syndrome causes physical and mental developmental disabilities for a lifetime, can shorten life expectancy but still help in living a healthy and fulfilling life.

What Leads To Down Syndrome?

In reproduction cases, both mother and father pass their genes to their children, which is further carried in chromosomes. As a baby’s cell develops, they are supposed to receive 23 pairs from each of the parents that are 46 chromosomes in total.  But in the case of Down Syndrome newborns, one of the chromosomes does not get separated, thus it ends up with three copies. It is this extra chromosome that causes problems in the development of the brain and other physical features. 

Different Types Of Down Syndrome

Down Syndrome is of three types-

  1. Trisomy 21- In this type, there is an extra copy of chromosome 21 in every cellthe most common one.
  2. Mosaicism-  In this, the child is born with an extra chromosome in some but not all the cells
  3. Translocation- In this, the children have only an extra part of Chromosome 21. Instead of 46 total chromosomes, one of them has an extra piece attached.

Research shows that women aged above 35 and men over 40 have chances of giving birth to a child with Down Syndrome. But it does not mean that parents are likely to have a child with this condition. It is said on a statistical basis. But parents having a family history of Down Syndrome or who carry genetic translocation are bound to visit the doctors.

Symptoms Of Down Syndrome

 In pregnancy, it is through screening that one can know if a mother is carrying a child with Down Syndrome or not.  But, it is only at birth that certain characteristics can help you understand it better.

  • The child has flat facial features
  • Small head and ears are seen.
  • A short neck
  • The tongue is bulging
  • Eyes are seen slanting upward
  • Atypically shaped ears
  • Poor muscle tone
  • The child will develop more slowly compared o other normal children.

However, with passing time, mental and social disability is seen to be slow. it may result in 

  • Impulsive behavior
  • Poor judgment 
  • Short attention span
  • Slow learning capabilities and grasping power

Down syndrome is often accompanied by medical conditions like

  • Hearing loss
  • Poor vision
  • Cataracts or clouded eyes
  • Hip problems or dislocations
  • Leukemia
  • Chronic constipation
  • Sleep apnea
  • Hypothyroidism
  • Obesity
  • Late tooth grow
  • Alzheimer’s disease
  • Respiratory infections
  • Urinary tract infections
  • Skin infections

Diagnosis Of Down Syndrome

The study says that in the United States if the man is above 40 and the women are above 35, then down syndrome is offered as a routine part of parental care, to assure about the health conditions of the little one in the womb. 

Ultrasound evaluation and blood tests can help to know about the down syndrome in the fetus. If the results are not normal then the doctor may advise Amniocentesis after 3 months of pregnancy. In this test, the doctor takes a sample of amniotic fluid to detect the number of chromosomes that the baby has.  After 3 months, an ultrasound and quadruple marker screen is done to identify the defects in the brain and spinal cord.

However, the doctor might also insist on Chorionic Villus Sampling where cells are taken from the placenta to analyze fetal chromosomes. Also, Cordocentesis or PUBS is done where blood is taken from the umbilical cord. But these two tests have higher chances of miscarriages. Thus, it should be done only under the guidance of the doctors.

Even at the time of birth, the doctor will undergo a physical examination of the baby and order a blood test called Karyotype to confirm Down Syndrome.

Treatment Of Down Syndrome

3Meds, the best online medical app in India says that there is no cure for Down Syndrome. But there is a wide variety of support and therapies that are provided. 

  • Sensory skills
  • Social skills
  • Self-help skills
  • Motor skills
  • Language and cognitive skills are some of them

Outlook

The life expectancy of Down Syndrome has changed over the years. Children have to be given special care and attention right from the beginning. For this, one has to be in constant touch with medical professionals. Though they have to face a lot of challenges that does not mean that they cannot do anything in their life. Schooling is the first step that helps them build themselves. They can also be indulged in activities which they are interested in. Even though this stays with them for a lifetime, but still they can mold their lives to their direction.