What is Down Syndrome?

Down Syndrome

A result of a genetic disorder that is caused by the presence of an extra copy of a chromosome in a person is called — “Down Syndrome.”  The chromosomes are the threadlike structures found inside the nucleus of the living cells that carry the hereditary genes of the parents. A normal individual usually inherits 23 pairs of chromosomes from parents giving a total of 46 chromosomes. These chromosomes influence the formation and development of the mental and physical aspects of an individual during pregnancy up to birth.

With Down syndrome, an excess copy of chromosome 21 — the building material of DNA,  is present from which it is medically termed as — “Trisomy 21.” This particular “chromosomal anomaly” is significantly associated with the specific facial features, delayed physical development, and intellectual deficiency of the person. In fact, Down syndrome is the most common genetic anomaly that caused intellectual incapacity impacting approximately about 6,000 babies born annually, that is, 1 in every 700 babies and affected more than 350,000 people in the United States.

Children born with Down syndrome vary in their levels of intellectual deficiency and it may range from mild to moderate. For mild intellectual deficiency, the child is capable of learning, able to get a job, and may take public transport by themselves. For those children affected with a moderate level of intellectual incapacity usually requires more support. Generally, children with Down syndrome are capable of attending regular school but may just require special assistance or modified structural activities though in their study.

This genetic disorder, Down Syndrome, is named after the British physician who first discovered the traits of the particular condition in 1866 – “Dr. John Langdon Down.”

Common Physical Characteristics of Down Syndrome include:

  • Small head
  • A flatter face, especially the bridge of the nose
  • Almond-shaped eyes that slant upward
  • Tiny white spots on the colored part of the eye (iris)
  • A short neck
  • Smaller ears which may fold a bit at the top
  • A tongue that sticks out of the mouth
  • Small hands and feet
  • A palmar crease – the single line across the palm of the hand
  • Small pinky fingers that curve toward the thumb
  • Poor muscle tone
  • Loose joints making them very flexible
  • Shorter stature both in children and adult

Common Medical Issues of Down Syndrome

Children born with Down syndrome face a variety of health problems, as follows:

  • Vision impairment — about half of people with Down syndrome have eyesight disorder.
  • Hearing impairment — of one or both ears due to fluid buildup
  • Feeding disorders — for infants and children due to smaller oral cavity and poor facial muscle tone
  • Seizures disorders — epilepsy which is prevalent in person with Down syndrome
  • Endocrinologic disorders — tend to be overweight due to hypothyroidism
  • Musculoskeletal and movement disorders — due to weak muscle tone (hypotonia) and looser ligaments (ligament laxity) resulting in excessive joint flexibility
  • Gastrointestinal disorder — may be due blockages in the intestines
  • Blood disorder — due to low iron may be prone to developing blood cancer
  • Weaker immune system — catches infection more easily
  • Pulmonary hypertension — a condition that if left untreated may result in lasting lung damage.
  • Developmental inadequacy in learning, intellectual, and autism
  • Sleep disorders like obstructive sleep apnea — a condition where the person’s breathing temporarily stops while asleep
  • Speech disorders like speech apraxia — difficulty in speech sounds
  • Spine disorders like kyphosis, lordosis, and scoliosis
  • Congenital heart diseases like tetralogy of Fallot, patent ductus arteriosus, and atrioventricular septal defect — the most common heart defect in children with Down syndrome

At birth, babies with Down syndrome may appear the same size as normal babies but their growth and development tend to be slow due to the poor muscle tone.

How Does The Maternal Age Affect Down Syndrome?

Medical experts said that maternal age is an important factor for the probability of having a child with Down syndrome. The older the woman, the greater is the chance of having a child with Down syndrome. This is because the older eggs of a woman pose greater risk of anomalous chromosomal division. And it is believed that, the woman’s risk of giving birth to a child with Down syndrome increases after 35 years of age.

Studies showed the following probability statistics of babies will be born with Down syndrome as per maternal age:

  • 1 baby out of every 1,200 born to women at the age of 25
  • 1 baby out of every 1,000 born to women under age 30
  • 1 baby out of every 350 born to women older than 35
  • 1 baby out of every 100 born to women older than 40
  • 1 baby out of every 60 born to women older than 42
  • 1 baby out of every 10 born to women older than 49

How Can Down Syndrome Be Prevented During Pregnancy?

According to medical experts, “folic acid” can fight the formation and development of Down syndrome. Expectant mothers are suggested to take folic acid supplements before and during early pregnancy. This will not only help prevent neural tube defects in babies but it may also significantly reduce the risk of Down syndrome. Neural tube defects are the abnormal development of the brain and the spinal cord during early pregnancy which may cause serious physical and mental disorders.

What are the Screening Tests for Down Syndrome?

In order to determine the status of the pregnancy in relation to Down syndrome, the mother may be suggested to undergo a screening test. The screening test usually includes the combination of a blood test and an ultrasound scan.

The blood test will analyze the various substances in the mother’s blood like Triple Screen, Quad-Screen, and MS-AFP.

For the ultrasound scan, the Nuchal translucency test is performed to check on the amount of fluid behind the baby’s neck because the presence of extra fluid in the neck is indicative of the genetic disorder.

What is the Treatment for Down Syndrome?

Down syndrome is a lifetime disorder. It is an irreversible health condition. The most that can be done to a child with Down syndrome is to help them improve their mental and physical abilities by developing their full potential, keeping them healthy in order to avoid further medical health issues, giving them the sense of belongingness, and most importantly making them feel that they are loved.


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