Down Syndrome

Down Syndrome

Down Syndrome

Down syndrome is a set of mental and physical disorders caused due to a pre-birth genetic problem. Children with Down syndrome have certain specific features, like a short neck or a flat face, along with varying range of intellectual disabilities. It’s a lifelong condition, but with proper care and management, children with Down syndrome can lead healthy and independent lives.

Down Syndrome


The major cause of Down syndrome is unusual cell division in early embryological development. In normal cases, a baby inherits a total of 46 chromosomes, half from each parent. These chromosomes carry the genetic material which controls the development of all body organs, including the brain. In case of Down syndrome, the baby inherits an extra chromosome. This abnormal chromosome with extra genetic material changes the normal development of the child’s body and brain. The reason for inheriting this extra chromosome is still unknown.


There are more than fifty signs or features of this disorder. Every child with Down syndrome has certain specific signs or health problems. However, some of the problems are common in all. They include:

Body Size and Shape

  • Hypotonia: Decreased muscular tone i.e. hypotonia all over the body.
  • Short Stature: Children with Down syndrome have slow growth and are usually shorter than an average adult individual.
  • A Wide, Short Neck: Children with Down syndrome have excessive skin and fat on their necks.
  • Stocky And Short Arms And Legs: Children with Down syndrome have short arms and legs, and their toes have wide spaces between them.

Facial Features

  • A Pushed-In Nasal Bridge: Children with Down syndrome have a flat nasal bridge between the eyes and nose.
  • Slanted Eyes: Children with Down syndrome have slanted eyes, along with small spots on the iris i.e. the colored region of the eyes.
  • Small Ears: The ears are small and set in a lower position on the head.
  • Irregular Teeth: The teeth are crooked and irregular and they develop late as compared to the teeth development of normal children.
  • Abnormally Shaped Tongue and Mouth: The mouth’s roof i.e. the palate is usually narrow with a downward curve, and the tongue partially sticks out.

Health Issues

  • Cognitive Disability: Most of the children with Down syndrome suffer from mild to severe intellectual disability, due to abnormal brain development.
  • Cardiovascular Defects: Almost half of the children with Down syndrome have cardiovascular disorders since birth.
  • Other Diseases: These children also suffer from ophthalmic disorders, celiac disease, hypothyroidism, hearing problems, lung infections, and dental diseases.
  • Psychological Disorders: Children with Down syndrome usually suffer from depression, anxiety, and other behavioral issues associated with autism or ADHD.

Down Syndrome

Diagnostic Tools

The American College of Gynecologists and Obstetricians recommends screening and diagnostic tests for all pregnant women for the identification of Down syndrome in the fetus.

Screening Test

The screening tests are performed in two steps which include:

Blood Test

This test measures the amount of PAPP-A i.e. Pregnancy Associated Plasma Protein-A as well as a pregnancy hormone called as HCG i.e. Human Chorionic Gonadotropin. With this, abnormal levels of HCG and PAPP-A indicate a problem in fetus development.


Ultrasound is done to measure a particular area on the backside of the fetus’s neck. This test is called as Nuchal Translucency Screening Test. If there are any abnormalities in the fetus development, more fluid is collected in the neck tissue.

Diagnostic Tests

If the results of the screening tests are worrisome, then your doctor will consider the diagnostic tests to confirm the diagnosis of Down syndrome. These tests include:


In this test, amniotic fluid sample is withdrawn from the uterus of the mother and it’s used to evaluate the chromosomes of the baby. This test is usually performed in the second trimester and confirms the presence of Down syndrome in the baby.

Chorionic Villus Sampling

In this test, the placental cells are taken to evaluate the chromosomes of the fetus. This test is performed after ten weeks of pregnancy and also carries a risk of miscarriage.


When you’ll learn about your child being diagnosed with Down syndrome, you’ll experience a mixture of fear, anger, worry, and sorrow. You’ll not know what to do and how to take care of a child with disability. The best way to handle the situation is to acquire information and support. You must take the following necessary steps to take care of your child.

Gather a Team of Specialized and Trusted Professionals

You’ll have to make significant decisions regarding your child’s treatment and education. Hence, organize a team of trusted healthcare professionals and teachers. These people will help you in evaluating the resources available in your area, and explain the federal and state programs for children with Down syndrome and other disabilities.

The team which will take care of your child’s medical needs may include the following professionals:

  • Primary care pediatrician, in order to provide daily routine care
  • Pediatric gastroenterologist
  • Pediatric cardiologist
  • Pediatric endocrinologist
  • Pediatric neurologist
  • Developmental pediatrician
  • Pediatric ophthalmologist
  • Pediatric ENT specialist
  • Physical therapist
  • Audiologist
  • Occupational therapist
  • Speech pathologist

Down Syndrome

Early Intervention Programs

It’s important to remember that early intervention, in case of children and infants with Down syndrome, can make a massive difference in dealing with their disabilities and in improving their quality of life. You must inquire about the early intervention programs available in your area. These programs offer early stimulation to children with Down syndrome with the necessary motor, sensory, and cognitive activities. These programs basically involve special educators who help your child in developing their language, motor, social, and self-help skills.

Approach Other Families Dealing With Identical Issues

Most of the communities have different support groups to help the parents or guardians of children with Down syndrome. Internet support groups for parents with disabled children are also available. Also, trusted friends and family members can be a great source of support and understanding.

Stay Positive

The key to deal with this situation is to maintain a positive attitude throughout. You must remember that most of the children with Down syndrome study in mainstream schools, develop reading and writing skills, acquire jobs and live a fulfilling and independent life.

© Teresa Boardman, Nanny Options.

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