Down Syndrome

Overview

Down syndrome is a genetic disorder. Here, a baby is born with a genetic condition where it has 47 chromosomes, instead of 46. Due to the abnormal division of cells, an extra copy of chromosome 21 is transferred into one cell. This copy may be a partial or full replica of chromosome 21. The affected person, thus, faces developmental delays and intellectual disabilities to various degrees.

Down syndrome is the most commonly diagnosed condition under the genetic chromosomal disorders category. It affects the learning capabilities of children and manifests as lifelong implications in adults. However, the severity of the condition depends from person to person. While there is no permanent treatment for Down syndrome, a diagnosed person can still live a healthy, high-quality life with proper healthcare facilities.

What is Down Syndrome?

When a baby is born with an extra copy of chromosome 21, the condition is referred to as Down syndrome. This condition affects how an individual's brain and body develop, impacting their usual growth timeline. Down syndrome occurs due to genetic defects, and not because of any mistake during pregnancy. People with the condition cannot be generalised into a single group showcasing the same types of symptoms, as they may vary from person to person. However, there are certain common cognitive, behavioural and physical patterns traced in people with Down syndrome.

Types of Down Syndrome

The severity of the condition depends upon the form of Down syndrome a child is diagnosed with. Here are the types categorised below:

Trisomy 21

This form of Down syndrome is the most common. It occurs when there is an additional copy of chromosome 21 in each cell.

Mosaicism

Mosaic Down syndrome is a condition where there is an extra copy of chromosome 21, but not in all the cells. This condition may trigger comparatively fewer symptoms.

Translocation

In this type, one of the 46 chromosomes present in the body, has an extension of chromosome 21.

Symptoms of Down Syndrome

People with Down syndrome may showcase various degrees of symptoms, depending on the severity of their condition. From behavioural to cognitive differences being traced with the average person as context - there are certain recognisable tell-tale signs of Down syndrome.

For example, a child diagnosed with Down syndrome may walk and move differently or face difficulty with learning and connecting emotionally. They may present themselves awkwardly in social situations and develop speaking skills at a much slower rate.

Some behavioural symptoms of Down syndrome may include impulsiveness, stubbornness, obsessive disorders and compulsive movements. They may often throw tantrums and fail to pay attention for long spans of time.

Certain physical signs of Down syndrome may also manifest in the child, and become more prominent as they grow up. For example, upward pointed slanting eyes, a flatter nose bridge region, shorter neck, smaller hands, ears and feet, palmar crease, small-pinky finger inclining towards the thumb, overall shorter stature and non-prominent muscle tone are some physical signs of the condition.

Causes of Down Syndrome

Down syndrome is caused by the abnormal division of cells resulting in an extra copy of chromosome 21. While pregnant women cannot control whether or not their children are born with Down syndrome, the risk of birthing a child with the condition increases with a woman's age.

A child diagnosed with Down syndrome may run the risk of developing other medical problems including congenital heart defects (CHDs), musculoskeletal disorders, scoliosis, kyphosis, lordosis, epilepsy, eating disorders (ED), sleeping issues, hearing problems, endocrinologic disorders, gastrointestinal issues, and more. Some complications may also include seizures or blackouts, leukaemia, dementia at a younger age, etc.

Diagnosis of Down Syndrome

Diagnosis of Down syndrome involves testing of a sample consisting of the genetic material, for an extra copy of chromosome 21. This extraction of the sample can be performed by healthcare professionals, through amniocentesis (sample of amniotic fluid), percutaneous umbilical blood sampling (sample of the blood on the umbilical cord) or chorionic villus sampling (sample of cells from a section of the placenta). A chromosomal test of the pregnant woman’s blood may also be conducted. Other diagnosis methods include In Vitro fertilisation and analysis of physical signs in adults.

Treatment of Down Syndrome

Down syndrome treatment is not a linear procedure as there is no permanent cure for this condition. However, there is availability of developmental and physical therapy which may help an affected person live a fulfilling life. For example, specialised educational facilities, behavioural counselling and social training, speech and occupational therapies, and enrolling of kids in programmes which centre around the nurturing of Down syndrome-affected individuals - are all major efforts being undertaken.

Preventive Measures for Down Syndrome

Down syndrome does not result from any specific action that may or may not have been undertaken by the pregnant mother. Thus, there are no preventative measures that can ensure that the child is going to be born complication-free.

However, as older women, typically above the age of 35 years or more are likely at risk of birthing children with Down syndrome, it's recommended that women plan their pregnancy at a younger age. Other than that, parents who are possibly going to birth to kids with Down syndrome can consult a genetic counsellor. The counsellor can help prepare the parents for what's to come and inform them about the implications of nurturing a kid with Down syndrome.

Myths and Facts Related to Down Syndrome

Below are some misconceptions associated with Down syndrome and the truths behind such myths:

Myth 1: People with Down Syndrome Die Sooner

Fact: The average person with Down syndrome lives up to 60 years of age, and some even live to cross 80 years. With the right kind of healthcare professionals to support the affected person, anyone with the condition can live a fulfilling and long life.

Myth 2: People with Down Syndrome cannot Learn, Read or Write

Fact: While people with Down syndrome may experience learning disabilities, they are not completely unable to read, write or learn. If the teachers are trained well to meet the student's learning pace and other expectations, the affected children can cope just as well as the average kid. However, regular evaluation and tracking of progress may be important steps in their educational journey.

Myth 3: People with Down Syndrome All Look the Same

Fact: Individuals with Down syndrome do not necessarily all look alike. This generalisation is false because they have the features inherited from family rather than other kids with the condition. However, affected people do share some common physical features which are distinguishably noticed in people with Down syndrome, including short height, upward pointing slanting eyes, flat nose bridge, etc.