Down Syndrome is one of the topics that arouses a lot of interest due to the humanitarian, scientific and social aspects it carries related to the individual and society. With the development of awareness, the need for a greater understanding of this condition has increased, away from misconceptions. Therefore, Al Mousa Health Hospital provides a comprehensive explanation of this topic in order to help increase the correct understanding and more positive treatment.

What is Down syndrome?

Down Syndrome is a genetic condition that occurs when a person has a complete or partial extra copy of chromosome 21, which leads to developmental changes that affect physical appearance and cognitive abilities. Its effects vary from person to person, but are often associated with some distinctive features such as special facial features, poor muscle tone, and a slight delay in mental development.

Symptoms of Down syndrome

Symptoms of Down syndrome vary from one person to another, but they include a group of physical characteristics, cognitive difficulties, and health problems that may vary in severity. The most important of these symptoms are the following::

• Distinctive facial features such as upward-slanting eyes. 
• Small head and small ears
• Short neck. 
• Poor muscle tone, which may lead to looseness in the joints
• Small hands and feet with deep creases in the palms. 
• Mild to moderate delay in mental development. 
• Slow learning of language and communication skills. 
• Difficulty with concentration and memory. 
• أمراض القلب الخلقية. 
• Hearing and vision problems.
• Thyroid disorders.
• Weak immunity and increased risk of infections.

Tests to diagnose Down syndrome during pregnancy

Down syndrome is diagnosed during pregnancy through a group of tests that help detect the possibility of the fetus having the condition. These tests are divided into screening tests and diagnostic tests:

Screening tests

These tests do not give an accurate diagnosis, but they determine the possibility of the fetus having Down syndrome and include the following:

• Blood test: Measures the levels of certain substances in the mother's blood to estimate the possibility of infection of the fetus.
• Ultrasound: Helps detect some possible signs, such as thickening of the fluid behind the fetus’s neck, which may be an indicator of infection.

Diagnostic tests

They are used to confirm the diagnosis if scan tests show a high probability of infection, and include the following:

• Amniotic fluid examination: It is done by withdrawing a sample of the fluid surrounding the fetus and analyzing the chromosomes.
• Chorionic villus examination: involves taking a sample of the placenta to examine the genetic makeup of the fetus.
• فحص دم الأم المتقدم: يعتمد على تحليل الحمض النووي الجنيني الموجود في دم الأم وهو اختبار غير جراحي لكنه دقيق بنسبة عالية.

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Types of Down syndrome

Down syndrome is divided into three main types based on the genetic changes that occur in the chromosomes of the affected person. These types are as follows:

Trisomy 21

This is the most common type and accounts for about 95% of Down syndrome cases. It occurs when each cell in the body contains a complete extra copy of chromosome 21 instead of the normal two copies, resulting in three copies of chromosome 21 within each cell. This type results from a random error during cell division early in the fetus's development and is not associated with direct inheritance from a parent.

Mosaic Down Syndrome

This type is rare and accounts for about 1% of cases. It occurs when some of the body's cells have three copies of chromosome 21 while other cells have the normal number of only two copies. This occurs due to a defect in cell division after fertilization, which results in a mixture of normal cells and cells containing the extra chromosome. People who suffer from this type may have less severe symptoms compared to the common type because some of their cells are normal.

Translocation Down Syndrome

This type represents about 4% of cases and occurs when a piece of chromosome 21 separates and attaches to another chromosome, most often chromosome 14 or 15. This may occur during the formation of the fetus or be inherited from one of the parents. In some cases, if one of the parents carries an abnormal genetic rearrangement without showing any symptoms, the probability of the infection recurring in the family is higher.

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Complications of Down syndrome

People with Down syndrome may face some health complications that vary in severity from one person to another, and depend on many genetic and health factors. The most important of these complications are the following:

Heart problems

About half of people with Down syndrome are born with congenital heart diseases, such as defects in the septum between the atria or ventricles, which may require surgical intervention in some cases.

Digestive system problems

Some may suffer from congenital defects in the digestive system, such as intestinal obstruction, esophageal reflux disease, or celiac disease, which requires constant medical follow-up. 

Weak immunity

The immune system of people with Down syndrome tends to be weaker than normal, making them more susceptible to infections such as respiratory infections, ear infections, and skin infections.

Hearing and vision problems

Many sufferers have hearing problems due to... Ear infections Recurring or fluid accumulation. They may also suffer from visual problems such as strabismus, myopia, or cataracts.

Thyroid disorders

People with Down syndrome are more likely to develop hypothyroidism, which can affect growth, energy, and cognitive functions if not treated early.

Sleep problems

Sleep apnea is common among people with Down syndrome as a result of a narrow airway, which may lead to sleep disturbances and effects on daily activity and concentration.

Delay in development and cognition

The degree of mental retardation varies among those affected, but it is often between mild and moderate, which may affect learning and social interaction. However, early intervention and educational support help improve skills significantly.

Increased risk of certain diseases

There is a greater possibility of developing certain diseases such as early-onset Alzheimer's disease, leukemia, and autoimmune disorders such as type 1 diabetes.

Causes of Down's disease

Down syndrome occurs as a result of genetic changes that lead to the presence of an extra copy of chromosome 21. This change occurs during cell division in the early stages of fetal development and is not related to the behaviors of the parents or any direct environmental factors. The causes of this disease are as follows:

Error in cell division (trisomy 21)

This is the most common cause and is caused by abnormal cell division during the formation of an egg or sperm where the chromosomes do not separate properly resulting in there being three copies of chromosome 21 instead of just two.

Translocation

In this type, part of chromosome 21 separates and attaches to another chromosome. This defect may be random or inherited from a parent who carries a silent genetic change without showing any symptoms.

Genetic mosaicism

This occurs when some of the body's cells contain three copies of chromosome 21 while other cells remain normal and this results from a defect in cell division after fertilization.

Risk factors that may increase the possibility of infection

• Advanced maternal age: Women over the age of 35 are more likely to have a child with Down syndrome because older eggs are more susceptible to errors in chromosomal division.
• Having a family history: If one of the parents carries genetic changes associated with the chromosomal change, this may increase the risk of recurrence.
• Previous birth of an affected child: If the parents have a previously affected child with Down syndrome, the chances of the condition recurring may be greater.

Frequently asked questions 

How long does a patient with Down syndrome live?

The average lifespan of a person with Down syndrome has improved significantly thanks to medical development, as it can reach 60 years or more. This depends on health care, quality of life, and management of associated health problems such as heart and immune diseases. The better the medical follow-up and social support, the greater the chances of a long and healthy life.

What are the reasons to have a Mongolian child?

The reasons for having a child with Down syndrome are due to the presence of an extra copy of chromosome 21 due to an error in cell division during the formation of the egg or sperm. The probability of infection increases with the mother’s age or the presence of a family history of similar conditions, and most cases occur randomly without a direct genetic cause.

Who is responsible for Down Syndrome, the mother or the father?

Down syndrome occurs as a result of a random defect in the division of chromosomes during the formation of an egg or sperm. The defect is often caused by the egg because eggs are more susceptible to division errors as the mother ages. However, the defect can occur on the father's side as well, and there is no specific party directly responsible.

How do I protect myself from having a Mongolian child?

There is no sure way to prevent having a child with Down Syndrome because it occurs due to random genetic changes, but the risks can be reduced by having children at a younger age and performing pre-pregnancy examinations and genetic counseling, especially if there is a family history, in addition to regular medical follow-up during pregnancy for early detection.

Down Syndrome is a genetic condition with changes in the state of the chromosomes, and is not related to the behavior of the parents. This condition requires special health care, and within Al Mousa Health Hospital you can receive the best care for these people at the hands of the best doctors specialized in treating this type of medical condition. 

The article was reviewed by Dr. Hamsa Hudhail Najib, pediatric specialist

Medical references 

Down syndrome – mayoclinic

What is Down’s syndrome – nhs