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WHAT IS DOWN SYNDROME?

Down syndrome is the most common chromosomal disorder. According to the CDC, 1 in 700 babies are born with Down syndrome in the United States! Also known as Trisomy 21, it is a condition caused when a baby develops an extra copy of the 21st chromosome while in the mother’s womb.

Here are some established Down syndrome facts you may not know about.

  • About 6000 babies are born with Down syndrome each year in the United States
  • According to the WHO a Down syndrome baby is born in every 1000-1100 live births
  • There are 3 types of Down syndrome, the most common being Trisomy 21. The other two are mosaicism and translocation. Whatever the type, they all have an extra copy of the 21st chromosome

What causes Down syndrome?

It’s known as a chromosomal disorder because that’s where the abnormality occurs. Each cell in the body consists of 46 chromosomes, 23 (or half) of which come from each parent. In Down syndrome, the affected individual has an extra (or partial) copy of chromosome 21. The DS chromosome results in the manifestation of certain physical and mental traits that vary from person to person.

There aren’t many causes of Down syndrome besides genetic mutations that occur during the developmental phase of a baby. However, the only other risk factor that is thought to increase the risk of having a Down syndrome baby is maternal age. Women older than 35 years are more likely to have a baby with Down syndrome but because of the higher birth rate in younger women, around 80% of Down syndrome babies are born to women under 35 years of age. There is no definitive research indicating a link between Down syndrome and environmental factors.

How is Down syndrome inherited?

Contrary to the fact that DS is genetic, it is not completely hereditary i.e. it is not passed on from parent to child. In fact, only 1% of all cases have a hereditary component. Trisomy 21 and mosaicism cannot be inherited, but the translocation type can be passed on from parent to child tracing back to the mother or father. About 5% of cases have been traced back to the father. The chances of Down syndrome recurring with a father carrier is about 3% compared to 10-15% with a mother carrier. Genetic testing can be done to find out the origin of the Down syndrome gene.

How do you diagnose Down syndrome?

Since Down syndrome is the result of a genetic mutation during the developmental phase, while the baby is still in the mother’s womb, certain prenatal tests are carried out. This process is called screening. Blood tests and ultrasound are used for prenatal screening tests that estimate the chances of having a Down syndrome baby. These tests are not definitive, they only provide a probability and come with a 1% risk of causing a spontaneous miscarriage. CVS is usually performed in the first trimester and amniocentesis in the second.

If you feel confused or have concerns about pregnancy or Down syndrome or maybe need a second opinion, an online medical consultation is a great option. You can look up your doctor and book your doctor appointment online with an online doctor app. It’s a quick and convenient way to get expert medical advice without having to go the doctors’.  A second opinion can really put your mind to rest and help make you a more informed decision in terms of how you want to carry your pregnancy forward.

Signs and symptoms of Down syndrome

There are certain Down syndrome symptoms and signs that are characteristic to DS. Such individuals have distinct physical features and health conditions that place them into the DS box. Mental and cognitive ability varies from person to person. Some may present with normal intelligence and cognitive function while other less so.

Some physical traits of DS include:

  • Upward slanting eyes with (epicanthic) skin folds on the inner corners
  • Small/short stature
  • Short neck
  • Flattened bridge of the nose
  • Low muscle tone
  • Single palmar crease

Having said this, these traits can also appear in individuals without DS, so a definitive diagnosis can only be achieved through ‘karyotyping’ or chromosomal analysis. This is done through a blood test in which chromosomes are lined up according to number, shape and size. Doctors can diagnose DS by analyzing the karyotype.

Unfortunately Down syndrome may come with its own set of complications. Some babies with DS have congenital heart defects. The DS life expectancy for children with heart defects is not great. They are found to be five times more likely to die within the first year of life compared to infants who do not have a heart defect. Research shows that around 75% of children with DS are more likely to suffer from hearing loss and eye disease compared to those without DS.

As far as cognitive ability goes, some may exhibit mild-moderate intellectual disability but this can greatly vary. Children with Down’s often show signs of developmental delay which means they tend to reach developmental milestones a little later than their peers. For instance a child with DS may:

  • Sit at 11 months
  • Crawl at 17 months
  • Walk at 26 months
  • have delayed speech

Such children may need speech therapy to help them with language and expression skills. There may also be problems with attention, behavior, judgment and poor gross and fine motor skills.

Can Down syndrome be treated?

There is no specific treatment for DS, however early screening and diagnosis is recommended. Early intervention can help minimize the disabilities and maximize the person’s potentials and prepare them for community integration.

The society has a huge role to play in accepting individuals with DS with an open mind. It is not a disease it is a condition. Children with DS need to be encouraged in schools and be given fair opportunities. Special educators, Physicians, speech therapists, and occupational therapists can all help.

If you have a child with DS and are looking for professional medical help, download the online doctor app Mylivedoctors and connect to an qualified healthcare provider from the comfort of your own home. This doctor availability app allows you to look up your doctor on a panel of established medical professionals and tele appointment with the doctor without having to wait hours in a doctor’s office. For more information go to www.mylivedoctors.com.