Understanding Down Syndrome

Down syndrome is not a disease as most people make it sounds some times. It is a genetic disorder. I know you would be wondering and eager to know the difference. Well, I am not a doctor but as a Biologist and a Teacher, there are ways we handle issues to avoid discrimination. Most diseases are as a result of human contact with external factors of the environment such as vectors and pathogens. Most of These diseases are contagious and are curable while genetic disorders occur during prenatal stage of development resulting in mental or physical disability which can not be corrected but can be managed with care. While we may be blamed for carelessly exposing ourselves to diseases sometimes, a child with genetic disorder on the other hand can not be blamed for his condition, not even the parents should be blamed for it. Your genes hold the keys to how your body appears and function. They’re behind everything from your complexion to food digestion. So if something goes wrong with them during cell division and differentiation while in your mother’s womb, it can go a long way in determining the outcome of every other phase of your development and life endeavours (Gloria Ogunbor, 2020).

What is Down syndrome?

Down syndrome is one of the genetic disorder in which individuals are born with an extra chromosome. Chromosomes are bundles of genes, and your body relies on having just the right number of them. With Down syndrome, this extra chromosome leads to a range of issues that affect you both mentally and physically.

Down syndrome is a lifelong condition. Although it can’t be cured, doctors know more about it now than ever. If your child has it, getting the right care early can make a big difference in helping him live a full and meaningful life.

Causes

Normally, each cell in your body has 23 pairs of chromosomes. One chromosome in each pair comes from your mother. The other comes from your father.

But with Down syndrome, something goes wrong and you get an extra copy of chromosome 21. That means you have three copies instead of two, which leads to the signs and symptoms of Down syndrome. Doctors aren’t sure why this happens. There’s no link to anything in the environment or anything the parents did or didn’t do. See image below:

The genetic basis of down syndrome: chromosome number 21 having 3 instead of 2.

findings from some studies states that certain parents have a greater chance of giving birth to a child with Down syndrome. According to the Centers for Disease and Prevention, mothers aged 35 and older are more likely to have a baby with Down syndrome than younger mothers. The older the mother is, the higher the probability.

Research also shows that paternal age too has an effect. One 2003 study found that fathers over 40 had twice the chance of having a child with Down syndrome.

Other parents who are more likely to have a child with Down syndrome include:

  • people with a family history of Down syndrome
  • people who carry the genetic translocation

It’s important to remember that no one of these factors mean that you’ll definitely have a baby with Down syndrome. However, statistically and over a large population, they may increase the chance that you may.

It’s not common, but it is possible to pass Down syndrome from parent to child. Sometimes, a parent has what experts call “translocated” genes. That means some of their genes aren’t in their normal place, perhaps on a different chromosome from where they’d usually be found.

The parent doesn’t have Down syndrome because they have the right number of genes, but their child may have what’s called “translocation Down syndrome.” Not everyone with translocation Down syndrome gets it from their parents — it may also happen by chance.

Types of Down Syndrome

There are three types of Down syndrome:

  • Trisomy 21. This is by far the most common type, where every cell in the body has three copies of chromosome 21 instead of two.
  • Translocation Down syndrome. In this type, each cell has part of an extra chromosome 21, or an entirely extra one. But it’s attached to another chromosome instead of being on its own.
  • Mosaic Down syndrome. This is the rarest type, where only some cells have an extra chromosome 21.

You can’t tell what type of Down syndrome someone has just by how they look. The effects of all three types are very similar, but someone with mosaic Down syndrome may not have as many signs and symptoms because fewer cells have the extra chromosome.

found that fathers over 40 had twice the chance of having a child with Down syndrome.

Other parents who are more likely to have a child with Down syndrome include:

  • people with a family history of Down syndrome
  • people who carry the genetic translocation

It’s important to remember that no one of these factors mean that you’ll definitely have a baby with Down syndrome. However, statistically and over a large population, they may increase the chance that you may.

How do you know someone with Down Syndrome?

The following symptoms enable you identity people with down syndrome.

Though the likelihood of carrying a baby with Down syndrome can be estimated by screening during pregnancy, you won’t experience any symptoms of carrying a child with Down syndrome.

At birth, babies with Down syndrome usually have certain characteristic signs, including:

  • flat facial features
  • small head and ears
  • short neck
  • bulging tongue
  • eyes that slant upward
  • atypically shaped ears
  • poor muscle tone

An infant with Down syndrome can be born an average size, but will develop more slowly than a child without the condition.

People with Down syndrome usually have some degree of developmental disability, but it’s often mild to moderate. Mental and social development delays may mean that the child could have:

  • impulsive behavior
  • poor judgment
  • short attention span
  • slow learning capabilities

Medical complications often accompany Down syndrome. These may include:

  • Congenital heart defects
  • Hearing loss
  • poor vision
  • Cataracts (clouded eyes)
  • hip problems, such as dislocation
  • Leukemia
  • Chronic constipation
  • Sleep apea (interrupted breathing during sleep)
  • Dementia (thought and memory problems)
  • Hypothyroidism (low thyroid function)
  • Obesity
  • late tooth growth, causing problems with chewing
  • Alzheimer’s disease later in life.

How And when is Down Syndrome Diagnosed

Screening tests during pregnancy

Screening for Down syndrome is offered as a routine part of prenatal care. Although screening tests can only identify your risk of carrying a baby with Down syndrome, they can help you make decisions about more-specific diagnostic tests.

Screening tests include the first trimester combined test and the integrated screening test.

The first trimester combined test

The first trimester combined test, which is done in two steps, includes:

  • Blood test. This blood test measures the levels of pregnancy-associated plasma protein-A (PAPP-A) and the pregnancy hormone known as human chorionic gonadotropin (HCG). Abnormal levels of PAPP-A and HCG may indicate a problem with the baby.
  • Nuchal translucency test. During this test, an ultrasound is used to measure a specific area on the back of your baby’s neck. This is known as a nuchal translucency screening test. When abnormalities are present, more fluid than usual tends to collect in this neck tissue.

Using your age and the results of the blood test and the ultrasound, your doctor or genetic counselor can estimate your risk of having a baby with Down syndrome.

Integrated screening test

The integrated screening test is done in two parts during the first and second trimesters of pregnancy. The results are combined to estimate the risk that your baby has Down syndrome.

  • First trimester. Part one includes a blood test to measure PAPP-A and an ultrasound to measure nuchal translucency.
  • Second trimester. The quad screen measures your blood level of four pregnancy-associated substances: alpha fetoprotein, estriol, HCG and inhibin A.

Diagnostic tests during pregnancy

If your screening test results are positive or worrisome, or you’re at high risk of having a baby with Down syndrome, you might consider more testing to confirm the diagnosis. Your health care provider can help you weigh the pros and cons of these tests.

Diagnostic tests that can identify Down syndrome include:

  • Chorionic villus sampling (CVS). In CVS, cells are taken from the placenta and used to analyze the fetal chromosomes. This test is typically performed in the first trimester, between 10 and 13 weeks of pregnancy. The risk of pregnancy loss (miscarriage) from a CVS is very low.
  • Amniocentesis. A sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother’s uterus. This sample is then used to analyze the chromosomes of the fetus. Doctors usually perform this test in the second trimester, after 15 weeks of pregnancy. This test also carries a very low risk of miscarriage.

Preimplantation genetic diagnosis is an option for couples undergoing in vitro fertilization who are at increased risk of passing along certain genetic conditions. The embryo is tested for genetic abnormalities before it’s implanted in the womb.

Diagnostic tests for newborns

After birth, the initial diagnosis of Down syndrome is often based on the baby’s appearance. But the features associated with Down syndrome can be found in babies without Down syndrome, so your health care provider will likely order a test called a chromosomal karyotype to confirm diagnosis. Using a sample of blood, this test analyzes your child’s chromosomes. If there’s an extra chromosome 21 in all or some cells, the diagnosis is Down syndrome.

Is Down Syndrome Treatable?

Down syndrome has no specific treatment yet but early intervention for infants and children with Down syndrome can make a major difference in improving their quality of life. Because each child with Down syndrome is unique, treatment will depend on individual needs. Also, different stages of life may require different services.

Team care

If your child has Down syndrome, you’ll likely rely on a team of specialists that can provide medical care and help him or her develop skills as fully as possible. Depending on your child’s particular needs, your team may include some of these experts:

  • Primary care pediatrician to coordinate and provide routine childhood care
  • Pediatric cardiologist
  • Pediatric gastroenterologist
  • Pediatric endocrinologist
  • Developmental pediatrician
  • Pediatric neurologist
  • Pediatric ear, nose and throat (ENT) specialist
  • Pediatric eye doctor (ophthalmologist)
  • Audiologist
  • Speech pathologist
  • Physical therapist
  • Occupational therapist

You’ll need to make important decisions about your child’s treatment and education. Build a team of health care providers, teachers and therapists you trust. These professionals can help evaluate the resources in your area and explain state and federal programs for children and adults with disabilities.

Coping and support

When you learn your child has Down syndrome, you may experience a range of emotions, including anger, fear, worry and sorrow. You may not know what to expect, and you may worry about your ability to care for a child with a disability. The best antidote for fear and worry is information and support.

Consider these steps to prepare yourself and to care for your child:

  • Ask your health care provider about early intervention programs in your area. Available in most states, these special programs offer infants and young children with Down syndrome stimulation at an early age (typically until age 3) to help develop motor, language, social and self-help skills.
  • Learn about educational options for school. Depending on your child’s needs, that may mean attending regular classes (mainstreaming), special education classes or both. With your health care team’s recommendations, work with the school to understand and choose appropriate options.
  • Helping a down syndrome child to learn
  • Seek out other families who are dealing with the same issues. Most communities have support groups for parents of children with Down syndrome. You can also find internet support groups. Family and friends can also be a source of understanding and support.
  • Participate in social and leisure activities. Take time for family outings and look in your community for social activities such as park district programs, sports teams or ballet classes. Although some adaptations may be required, children and adults with Down syndrome can enjoy social and leisure activities.
    • Helping a child with down syndrome to participate in leisure activities
  • Encourage independence. Your child’s abilities may be different from other children’s abilities, but with your support and some practice your child may be able to perform tasks such as packing lunch, managing hygiene and dressing, and doing light cooking and laundry.
  • An independent young man with down syndrome
  • Prepare for the transition to adulthood. Opportunities for living, working, and social and leisure activities can be explored before your child leaves school. Community living or group homes, and community employment, day programs or workshops after high school require some advance planning. Ask about opportunities and support in your area.
  • A down syndrome lady living a normal life

Expect a bright future. Most people with Down syndrome live with their families or independently, go to mainstream schools, read and write, participate in the community, and have jobs. People with Down syndrome can live fulfilling lives

Acknowledgement

https://www.mayoclinic.org

https://www.healthline.com

Image credit:https://www.google.com

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