Recall your class 8 biology lessons and think about chromosomes. The first thing that comes to mind is that the human cells consist of 23 pairs of chromosomes. One of each of these pairs comes from the mother while the other comes from the father. Down syndrome occurs when a cell division abnormality occurs with chromosome number 21.
This abnormality may result in an extra chromosome, leaving the baby with 3 chromosomes of number 21 instead of the usual two. The extra genetic material then causes developmental problems in the fetus. The consequences can be lifelong intellectual issues, learning disabilities, heart or gastrointestinal issues and developmental delays.
There is no clear known cause of Down syndrome. Although, research suggests that it has nothing to do with inheritance and is simply caused by a mistake in cell-division while the fetus is in the early stages of its development.
It is thus, important to get tested during your pregnancy and have a diagnosis for the down syndrome.
Symptoms
You might observe one or many of the following symptoms in your child if he/she has been diagnosed with the down syndrome. Most of these symptoms are a result of developmental delays of the fetus. Once you know them and are aware of their existence in your child, you will be able to cope with these issues and treat them with the help of the right medical professionals.
Here are the symptoms your baby may have if the reports are positive.
● Small head
● Short neck
● Protruding tongue
● Upward slanting eyelids (palpebral fissures)
● Unusually shaped or small ears
● Poor muscle tone
● Broad yet small-sized hands with a one and only crease in the palm
● Relatively short fingers and small hands and feet
● Excessive flexibility
● Brushfield’s spots (miniature white spots on the iris of the eye.
● Slow growth: Infants with Down syndrome grow slowly and remain shorter than other children the same age.
● Intellectual disabilities
● With effect on short-term and long-term memory, language capabilities take time to develop.
● Flattened face or distinct facial features
Probable Causes
Any one of these three genetic variations can be the cause of Down syndrome:
● Trisomy 21: Trisomy 21 reflects the most common cause. The baby develops three copies of chromosome 21, instead of the usual two copies, in all cells. The reason for this is the abnormal cell division which happens during the development of the sperm cell.
● Mosaic Down syndrome: Although, very rare, Mosaic down syndrome can also lead to complications. In this case, a mixture of two types of cells exist, some containing the usual 46 chromosomes whereas some containing 47. Those cells with 47 chromosomes contain an extra chromosome 21 which causes all the problems.
● Translocation Down syndrome: TDS accounts for about 4% of cases of Down syndrome. Here, the total number of chromosomes in the cells remains 46. Yet, an additional full or partial copy of chromosome 21 attaches to another chromosome, usually chromosome 14. This presence of the extra full or partial chromosome 21 is what causes the characteristics of Down syndrome.
Risk factors
● Previous child with Down Syndrome:
Once you have a child with genetic abnormalities, there is an increased chance for the next born children to develop similar issues. However, a genetic counsellor can help you evaluate the risk of having another child with Down syndrome
● Overage pregnancy:
Women above the age of 35 are more likely to have a high risk pregnancy with complications like the down syndrome. That’s because, as women age, the quality of their eggs decreases. They are more likely to encounter an improper chromosome division than a younger mother.
Complications
There are chances your baby will develop complications that might trouble him/her for life.
● Obesity
● Sleep apnea
● Immune disorders
● Spinal problems
● Heart defects
● Gastrointestinal issues
● Leukaemia
● Dementia
● Endocrine problems
● Dental issues
● Ear infections
● Seizures
● Vision problems
Prevention
While there’s no discrete way to prevent Down syndrome, a genetic counsellor can certainly help you assess and understand the possibility of you bearing a child with Down syndrome. The specialist can explain to you the results and findings of the prenatal tests and help you evaluate the related pros and cons.
Treatment
A child with down syndrome will need care much more than the other children without abnormalities. That’s the reason why, if your baby has been diagnosed with the syndrome, you must have and be in touch with a primary care paediatrician to coordinate with, in times of emergencies. This primary care paediatrician will also be responsible for the child’s routine check-ups in the early stages of life.
Next, you will need to get in touch with other specialists depending on the complications your child has. These specialists can be the Paediatric cardiologist, Paediatric gastroenterologist, Paediatric endocrinologist, Developmental paediatrician. Paediatric neurologist, Paediatric ear, nose and throat (ENT) specialist, Paediatric eye doctor (ophthalmologist), Audiologist, Speech pathologist, or Physical therapist.
How to Cope up with the Down Syndrome
● Find out about early intervention programs in your region.
● Learn about proper educational options for school.
● Find and connect with other parents and their children who are dealing with similar if not the same problems.
● Participate in social and leisure activities with the child.
● Prepare the child physically and mentally for the transition into adulthood.
● Promote independence and induce confidence for the same in your child
Takeaway
Down Syndrome is a result of genetic abnormalities and there’s not much you can do to prevent it from troubling your child. However, the early it gets diagnosed the more ways you will have in hand to treat the issue. So, visit me, Dr Sheetal Agarwal, for a check-up, especially if you have symptoms of high risk pregnancy that can lead to Down Syndrome. I am a gynaecologist and infertility specialist with almost 25 years of experience in the field.
I would love to help you understand the disorder better and let you know your answers if you have any queries.
You can call us and book a consultation right away!
