Down Syndrome: Types, Causes, Symptoms and Treatment

Down Syndrome is one of the most common chromosomal defects. According to the recent statistics 1 in every 700 babies is born with Down syndrome in the United States. The percentage may vary but babies with Down syndrome are born everywhere on earth. In fact, the global percentage of babies being born with Down syndrome is on a gradual rise. As a society, we need to stay aware and informed about the condition and how it affects a person, their family and society as a whole.

What is Down Syndrome?

Down Syndrome, also known as Down’s Syndrome, is a genetic condition in which a baby is born with an extra full or partial copy of the chromosome 21. The condition, hence, is also called Trisomy 21. The extra copy of chromosome-21 creates various problems and may affect a person’s physical as well as mental condition.

The condition may shorten the lifespan of the affected person. It may also create lifelong disabilities. However, a person with Down syndrome can lead a healthy and fulfilling life too.

Types of Down Syndrome

As discussed earlier, Down syndrome is caused due to an extra full or partial copy of chromosome-21. The extent of the triplication of chromosome number 21 and their presence in the number of cells form the basis of the categorization of Down syndrome.

Trisomy is the most common form of Down syndrome. This is the condition in which every cell of a person contains the extra copy of chromosome-21. Needless to say, a person with trisomy exhibits the most number of symptoms.

Translocation is the condition in which a person has the normal number of chromosomes i.e. 46 but one of the chromosomes contains an extra part of chromosome-21.

Mosaicism is the condition in which not all cells of the body contain an extra copy of chromosome-21. Persons with mosaicism exhibit fewer symptoms than persons with trisomy.

What Causes a Child to be born with Down Syndrome?

There is no certain factor that can be attributed as the cause for the triplication of chromosome-21. Hence, no certain cause can be given for a child to be born with Down syndrome.

However, certain parents are statistically at more risk of conceiving a child with Down syndrome.

• Mothers over 35 years of age are at more risk of having a child with Down syndrome as compared to the younger mothers. The probability increases rapidly with the age of the mother.
• Father’s over 40 years of age are at double risk of having a baby with Down syndrome as compared to the fathers of younger age.
• Parents who have a family history of Down syndrome are also more likely to have children with Down syndrome.
• Persons carrying genetic translocation are also at higher risk of conceiving a child with Down syndrome.

It is important to note that the above-mentioned factors increase the risk but do not mean that every person falling in those categories will give birth to a child with Down syndrome. Moreover, people who fall out of these categories too cannot stay assured that their child will not be born with Down syndrome.

Note: The likelihood of giving birth to a child with Down syndrome can be estimated during pregnancy screening.

Signs and Symptoms of a Child with Down Syndrome

A baby born with Down syndrome may show some visible signs indicating her condition. The signs may include:

• Flat facial features
• Short neck
• Small head and ears
• Bulging tongue
• Upward slanting eyes
• Atypically shaped ears
• Poor muscle tone
• Broad, short hands with a single crease in the palm
• Relatively small hands, feet and fingers
• Tiny white spots on the iris (Brushfield’s spots)

While a baby born with Down syndrome can be of average size at birth but will typically develop at a much slower pace than a normal child. They may also show symptoms of mild to moderate degrees of developmental disorders. With growing age, the child may also exhibit symptoms of delayed social developments like poor judgment, impulsive behavior, short attention span and slow learning capabilities.

It is worth noting that individuals with Down syndrome are unique with varying degrees of symptoms.

What are the Medical Complications related to Down Syndrome?

Down syndrome is a genetic condition that is almost always accompanied by some medical complications. People with Down syndrome are also more likely to catch common infections like skin infection, urinary tract infection and respiratory infection. Some of the most common medical complications accompanying Down syndrome are as follows:

• Obesity
• Congenital heart defects
• Gastrointestinal disorders
• Hearing loss
• Cataract or clouded eyes
• Low vision
• Hip problems like dislocation
• Chronic constipation
• Immune disorders like leukemia
• Obstructive sleep apnea (interrupted breathing during sleep)
• Cognitive impairments
• Hypothyroidism
• Delay in tooth growth causing problems in chewing
• Alzheimer’s disease later in life

Is There any Treatment for Down Syndrome?

There is no treatment for Down syndrome. However, a better understanding of the condition and early interventions can positively impact the quality of life of the person with the genetic conditions like Down syndrome. Physical and developmental therapies might help a child with Down syndrome to reach her full potential and live a meaningful life.