What is the Down’s Syndrome?

Down syndrome is the most common form of intellectual disability in the world. It occurs in approximately 1 out of every 1000 babies born alive. Down syndrome is a condition in which a baby is born with an extra chromosome number 21. The extra chromosome is associated with delays in the child’s mental and physical development, as well as an increased risk for health problems.

The physical features and medical problems linked to Down syndrome can vary widely from child to child. While some kids need a lot of medical attention, others lead healthy lives.

Down syndrome, also called trisomy 21, happens by chance, can’t be prevented, and isn’t caused by anything a parent did or didn’t do. Fortunately, the health problems can be managed well, especially when found early, and many resources are available to help kids and their families.

 What causes Down syndrome?

A baby inherits genetic information from its parents in 46 chromosomes, typically 23 from the mother and 23 from the father. Chromosomes hold our genes, which carry the information that determine how our bodies look and work, including traits from our relatives like hair and eye color.

In most cases of Down syndrome, a child gets an extra chromosome 21 for a total of 47 chromosomes instead of 46. Rarely, the extra chromosome 21 attaches to another chromosome. This extra genetic material causes the physical features and developmental delays in people with Down syndrome. The features are no different if the extra chromosome is by itself or attached to another one.

How can Down syndrome affect kids?

Kids with Down syndrome often have similar physical features, such as:

• Flattened face
• Small head
• Short neck
• Upward slanting eye lids
• Unusually shaped or small ears
• Poor muscle tone
• Relatively short fingers and small hands and fee
• Protruding tongue
• Babies with Down syndrome are often smaller than other newborns, and they tend to grow at a slower rate and remain shorter than their peers.
• Down syndrome affects kids’ ability to learn in different ways, and most have mild to moderate intellectual disability that affects both vision and hearing.
• Children with Down syndrome demonstrate increased behavioral issues compared with their typical peers.
• Women who have Down syndrome are fertile and can give birth to children but males are reported to be infertile.

What medical problems can happen with down syndrome?

Some kids with Down syndrome have no serious health problems. But others may have medical issues that need extra care.

Medical problems that happen more often with Down syndrome include:

• Heart defects
• Immune disorders
• Thyroid problems (usually hypothyroidism)
• Stomach and intestinal problems, including celiac disease, reflux, and constipation
• Seizures
• Breathing problems, including sleep apnea and asthma
• Obesity
• Infections, including ear infections and pneumonia
• Childhood leukemia

How Is Down syndrome diagnosed?

Two types of prenatal tests can look for Down syndrome in a fetus:

• Screening tests estimate the chances that a fetus has Down syndrome.
• Diagnostic tests can tell if the fetus does have the condition.
• Screening tests during pregnancy:
• Nuchal translucency test
• Blood test
• Integrated screening test
• Ultrasound
• Cell-free fetal DNA analysis: This test analyzes fetal DNA found in the mother’s blood. It can be done in the first trimester and is more sensitive at finding trisomy 21 than standard screening tests noted above.

• Diagnostic tests during pregnancy:

• Chorionic Villus Sampling (CVS)
• Amniocentesis
• Preimplantation Genetic Diagnosis is an option for couples undergoing in vitro fertilization

• Diagnostic tests for newborns:

 After birth, the initial diagnosis of Down syndrome is often based on the baby’s appearance. After a baby is born, a karyotype test (chromosome analysis) can confirm Down syndrome. This is typically done on a blood sample and the chromosomes are grouped by size, number, and appearance to look for differences.

Is there a cure for Down syndrome?

Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives.

• This article has been approved by Dr. Maryam Moshfeghi.