What is Down Syndrome?
Down syndrome is a genetic disorder where a child is born with an extra chromosome, chromosome 21. A normal baby is born with 23 pairs of chromosomes which mean a total of 46 chromosomes but in the case of Down syndrome, a baby is born with 47 chromosomes. Chromosomes are a bunch of genes, and a normal person is born with just the right amount of chromosomes but people born with Down syndrome have an extra chromosome that adversely affects the development of the brain and the body. Down syndrome is a lifelong disorder and even though it can’t be cured if a baby born with it is given the proper care then it can make a huge difference and can be helpful for the baby and can live a meaningful and right life.
What are the Types of Down Syndrome?
There are three types of Down syndrome including:
Trisomy 21: It’s the most common type of Down syndrome and it consists of 95% of people with Down syndrome have Trisomy 21. In the case of Trisomy, a baby is born with separate copies of chromosome 21 instead of the normal 2 copies.
Translocation Down syndrome: It’s very rare and accounts for about 3 % of people with Down syndrome. Translocation Down syndrome happens when an additional part or a full extra chromosome 21 is present, but it is connected to a different chromosome instead of being a separate chromosome 21.
Mosaic Down syndrome: About 2% of people with Down syndrome have this type. Babies born with Mosaic Down syndrome have a few of their cells with 3 copies of chromosome 21, but other cells have the usual two copies of chromosome 21. Babies born with mosaic Down syndrome might same symptoms as other babies born with the other two types of Down syndrome. Though, they might have lesser features and symptoms of Down syndrome because of the presence of a few or many cells with a normal number of chromosomes.
What are the Symptoms of Down Syndrome?
People born with Down syndrome have mental and physical developmental problems which may vary from mild, moderate, and severe from person to person. People with Down syndrome have distinct facial features as compared to normal people.
The physical symptoms of Down syndrome may include:
- Flat faced
- Short Height
- The size of the head and neck is small
- Tongue is mostly stuck out
- Upward pointing slanting eyelids
- Small or abnormally shaped nose
- Weak muscle tone
- Small pinky finger
- Hands will be mostly short and broad
- Short fingers along with small hands and feet
- Extra flexible body
As a baby with Down syndrome grows up, some more problems may arise such as:
- Infection in ears and hearing problem
- Eye-related problems like decreased vision and other eye diseases
- Dental issues
- More prone to illness and diseases
- Sleeping disorders
- Heart-related problems
Cognitive symptoms of Down syndrome might include:
Children born with Down syndrome might face cognitive development problems such as:
- Problems while walking or moving
- Late development of speaking skills
- Problem in learning
- Less social or emotional skills
- Weak memory
What Causes Down Syndrome?
Down syndrome is caused by an extra chromosome
A healthy child is normally born with 23 pairs of chromosomes, which makes it a total of 46 chromosomes but children with Down syndrome are born with an extra chromosome 21 in some or all of their cells. It changes the way cells in chromosome 21 divide because of which Down syndrome occurs and creates physical and mental development problems.
What are the Risk Factors of Down Syndrome?
Late pregnancy: The risk of giving birth to a child with Down syndrome increases with late pregnancy. It’s due to the reason that older eggs have a greater risk of unusual chromosome division. After the age of 35, the risk of conceiving a child with Down syndrome increases.
Carriers of the genetic translocation for Down syndrome: Parents, both father, and mother may pass the genetic translocation for Down syndrome on to their children.
Already have a child with Down syndrome: Parents of a child with Down syndrome are at an increased risk of having another child with Down syndrome.
What are the Complications of Down Syndrome?
Children with Down syndrome can have a variety of complications as they grow. Some general complications of Down syndrome include:
Heart problems: Almost half of the children born with Down syndrome suffer from some kind of congenital heart problem which can be life-threatening and may need surgery to cure it during early infancy.
Gastrointestinal (GI) disorders: Some children born with Down syndrome may have GI disorders and might have abnormalities of the intestines, anus, esophagus, and trachea. The risk of developing digestive disorders, including GI blockage, celiac disease, or heartburn (gastroesophageal reflux) are also present.
Problems in the immune system: Children with Down syndrome have a high chance of developing autoimmune disorders, some types of cancer, and infectious diseases, like pneumonia due to the abnormalities in their immune system.
Sleep apnea: People with Down syndrome may develop obstructive sleep apnea due to the changes in the soft tissue and skeletal changes that might obstruct their airways.
Obesity: People with Down syndrome are at greater risk of being obese compared with normal people.
Spinal disorders: A few people with Down syndrome might suffer from a misalignment of the top two vertebrae in the neck (atlantoaxial instability) which can lead to severe injury to the spinal cord because of the overextension of the neck.
Leukemia: Young children with Down syndrome have a higher chance of getting leukemia.
Dementia and Alzheimer’s disease: People with Down syndrome are at great risk of developing dementia and Alzheimer’s disease after they get older, usually when their age is around 50.
Other complications: People with Down syndrome may also suffer from other conditions like hearing and vision problems, endocrine problems, dental problems, and seizures.
How Down Syndrome is Diagnosed?
A child born with Down syndrome has abnormal facial features which can be diagnosed easily. Down syndrome can be diagnosed during pregnancy with tests such as:
Prenatal screening tests: These tests help to check the risk of giving birth to a child with Down syndrome instead of confirming it. Screening tests might include a blood test of the parent’s blood to examine if there are indicators of Down syndrome. Ultrasound is another type of screening test where images of the child are taken and your doctor will check if there are signs of Down syndrome, such as extra fluid behind the baby’s neck.
Diagnostic tests during pregnancy: Diagnostic tests during pregnancy can confirm that your child will be born with Down syndrome. These tests are done after a screening test that indicates that the child may be born with Down syndrome. Diagnostic tests mostly include:
Amniocentesis: Percutaneous umbilical blood sampling (PUBS).
Chorionic villus sampling (CVS): These tests can find out changes in the chromosomes that result in a Down syndrome diagnosis.
Diagnostic tests after birth: After a child is born, diagnostic tests can confirm Down syndrome. The appearance of the child is the first indicator of Down syndrome. Also, there is a test known as chromosomal karyotype that can confirm Down syndrome. In this test, a sample of the baby’s blood is taken and the chromosomes are analysed. If there’s an extra chromosome 21 in all or some cells, then Down syndrome is confirmed.
What are the Treatment Options Available for Down Syndrome?
Down syndrome is a lifelong condition and there is no cure for it but treatments are available that can help your child to develop abilities as soon as possible and can help your child to live a life with full potential. These treatment options might include:
Physical and speech therapy: Children with Down syndrome have late physical development and they learn to talk very slowly as compared to other children. Physical and speech therapy helps them to learn to walk and other necessary physical activities along with improving their speech.
Specialised education programs: There are special education programs created for children with Down syndrome where they are taught what children are taught usually in schools but these specialised education programs are designed for children with Down syndrome as their learning capability is slow.
Social and recreation activities: These activities help children with Down syndrome to improve their social skills and along with teaching them other recreational activities.
Programs offering job training and teaching self-care skills: It’s difficult for children with Down syndrome to get jobs after they grow up and usually, they have to depend on others for their whole life for basic things of life. Nowadays there are programs available that teach children with Down syndrome some skills that may help them to earn some money after growing up along with teaching self-care skills so that they don’t have to be dependent on others for every small thing.
Living with Down Syndrome
It can be devastating news for parents to find out that their child is born with Down syndrome as they know their child is not normal like others but with proper care and guidance a child with Down syndrome can lead a fulfilling life. First of all, you need to make a team of specialists that will provide proper medical care along with helping your child develop skills that will help him in the future. You can join Down syndrome support groups where you can share your experiences and listen to the experience of other parents and together learn things that will help children with Down syndrome to live a normal life. You shall know that you are not alone and your child is as special as any other child.
Whom to Consult?
Children with Down syndrome are normally diagnosed before or at birth. If your child is born with Down syndrome then you can consult with doctors and specialists regarding the child’s growth and development. Children born with Down syndrome may have some complications so, it’s important to take proper care of the child and treat those complications. A team of specialists will help your child to develop physically and mentally so that your child can lead a normal, fruitful life.