Symptoms of Down Syndrome | Can It be Diagnosed?

Down syndrome is a genetic disorder that may manifest itself in the baby’s body at the very beginning of birth. In fact, these people have an extra chromosome and suffer from a series of mental limitations. Fortunately, in recent years, people have become more aware of this disease, and with the support of the society, affected people can experience a more quality and peaceful life. But what are the symptoms of Down syndrome? And how to treat Down syndrome? In the rest of this article, stay with mrdervish and read the answers to all these questions.

What is Down syndrome?

Genes play a very important role in our human body and ultimately affect the appearance and proper functioning of organs. Down syndrome is also a genetic disease in which the affected person has an extra set of genes or an extra chromosome, and this causes many physical and mental problems for them.

This disease occurs in chromosome 21 and hence its sufferers are also called Trisomy 21. Down syndrome is one of the most common genetic disorders for which, unfortunately, there is still no definitive treatment. We should only be able to create a better life for the sick person with a series of measures.

We may know many of the symptoms of Down syndrome only in some outward signs, but these symptoms are widespread and sometimes it becomes more difficult to identify them.

Causes of Down syndrome

Before dealing with the symptoms of Down syndrome, it is better to briefly explain the cause of Down syndrome.

As mentioned, a child with Down syndrome has an extra chromosome. All human beings have unique characteristics which they inherit from their parents. To know these characteristics, we must pay attention to genes. Genes are located in the nucleus of cells and many of them can make chromosomes.

There are 23 pairs of chromosomes or 46 chromosomes in a healthy human body. During reproduction, parents pass half of their chromosomes to the child. So, the baby receives each half of its chromosomes from each of the parents. But the cause of Down syndrome is that in some people, chromosome 21 does not separate well. Finally, instead of the child having 2 copies of chromosome 21, he/she has 3 copies of it and we say that he/she has Down syndrome.

According to research, if the mother’s gestational age is older than 35 years, the probability of the baby’s Down syndrome increases. Also, if they have already given birth to a child with Down syndrome, the probability of the new child having signs of Down syndrome increases.

Symptoms of Down syndrome

Maybe many of us know the signs of Down syndrome only in some of the outward signs! But these symptoms are widespread and sometimes it becomes more difficult to identify them. For example, people with mild Down syndrome can have a job like other people. They can enter into emotional relationships and live their lives without needing much help. While some others are affected by its more severe type and need constant care. The important thing is that you can recognize the symptoms of Down syndrome early in order to create a better life for the person affected.

In general, the symptoms of Down syndrome can be divided into two physical and mental groups:

Physical signs of Down syndrome

• short neck
• wide face
• small head and ears
• Eyes bulging and facing forward
• swollen tongue
• Low muscle power

Mental signs of Down syndrome

• Impulsive behaviors
• Poor analytical power
• Mental retardation
• Low learning capacity
• Short attention span
• Distractions
• OCD (Obsessive Compulsive Disorder)

In the following, we have tried to examine the symptoms of Down syndrome separately during pregnancy, infancy, childhood, etc.

Signs and Symptoms of Down syndrome during pregnancy

Down syndrome is one of the problems that can be diagnosed through chromosomal analysis. Diagnosing Down’s syndrome with ultrasound during pregnancy and after the birth of the baby is one of the conventional methods that are performed with this purpose. In general, pregnant women should do tests in the early days of pregnancy. These tests help the specialist to diagnose the position of the fetus, health, genetic problems, birth defects, size and age of the fetus.

Sometimes, the condition of the parents and their family history is such that the specialist doctor suspects the existence of a Down syndrome fetus. Also, the doctor may find out the symptoms of Down syndrome during the initial examinations and checking the results of the tests. In such conditions, it is necessary for a specialist doctor to prescribe additional tests and imaging methods. Diagnosing Down’s syndrome with ultrasound is one of the effective diagnostic methods in such conditions.

In the early months of pregnancy, if a specialist doctor notices certain symptoms, it is necessary to send the mother to an ultrasound to diagnose Down’s syndrome. Examining the test results can indicate the presence of mild or severe Down syndrome. Ultrasound helps the doctor to see the image of the internal organs of the fetus well. Problems such as intestinal disorders and heart diseases usually indicate a fetus with Down syndrome.

Symptoms of Down syndrome in newborn babies

Down syndrome may affect children physically, cognitively, and behaviorally. Every child has unique conditions and may or may not have the following special features in different degrees. These features and symptoms of Down syndrome in newborns are divided into two main categories.

Physical signs of Down syndrome in infants

These features and Physical signs of Down syndrome in newborns are:

• Loose body parts
• Smoothness in the back of the head
• Wide distance between the two eyes
• wide face
• Small and wide nose
• Big tongue with deep furrows
• Small ears attached to the head and may have folds on the top of the ear
• The mouth is smaller than average and the tongue is larger than the mouth
• Transverse lines of the palm
• Short and thick arms and legs
• Short neck and small hands with short fingers
• Weak head hair
• Abdominal muscle relaxation
• Wideness of the pelvis
• Low weight
• Moderate mental retardation

Developmental, cognitive and behavioral symptoms of Down syndrome in infants

Among the signs of Down syndrome in newborns, we can mention developmental, cognitive and behavioral symptoms. All children with Down syndrome have some learning disabilities and developmental delays, but the symptoms of Down syndrome in newborns vary widely.

Children with Down syndrome may be slower than other children in learning skills such as sitting, standing, walking and talking. They will eventually learn these skills, they just need more time to teach and learn. In some people, these movements are associated with some disorders and disabilities, which will continue until puberty, youth and middle age.

Most of these people have mild to moderate intellectual disabilities. They may have special challenges due to verbal and communication memory disorders. In general, Infants with Down syndrome:

• are too loose and unbalanced
• have a flat profile, slanted upwards eyes, small ears,a single, a large tongue, short muscles and soft joints.
• usually reach developmental skills such as crawling, sitting and walking later than other children.
• have normal height and weight at birth, but their growth is slower and they look smaller than their peers.

Symptoms of Down syndrome in children

• Problems such as stubbornness, temper tantrums and bad manners
• Talking to themselves out loud
• Delays in growth and development
• Some difficulties in the level of learning
• Intellectual disability
• Lack of clear speech and the need for speech therapy

In addition to the mentioned symptoms, Down syndrome in children can increase the possibility of some other diseases. Diseases such as:

• Hearing and vision problems
• obesity
• Delay in tooth development
• Congenital heart problems
• Leukemia
• Cataracts
• Alzheimer’s in old age
• Hypothyroidism
• Increased incidence of various infections

Prevention of Down syndrome

There is no way to prevent or prevent Down syndrome. The risk of having a child with Down syndrome increases with age. This risk is more common among women aged 35 and older. If you are at risk of having a child with Down syndrome or currently have a child with Down syndrome, you should consult a genetic counselor before becoming pregnant again.

Couples who have a family member with Down syndrome should consult a genetics specialist before trying to get pregnant. They should receive the necessary counseling for pregnancy. It is one of the most effective ways to prevent Down syndrome.

Pregnant women should regularly perform screening tests to ensure the health status of the child. If a baby is diagnosed with Down syndrome, it should be prevented from being born.

Frequently Asked Questions

What are the types of Down syndrome?

• Trisomy 21
• Translocation Down syndrome
• Mosaic Down syndrome

What are the symptoms of Down syndrome in the fetus?

Diagnosing Down syndrome in a fetus is only the responsibility of the attending physician. Because the pregnant mother herself does not have any symptoms, and only with screening tests can the result be presented with confidence.

Can Down syndrome be diagnosed during pregnancy?

Fortunately, with the progress of science, it has become possible to diagnose many diseases and congenital defects in the fetus. Down syndrome can also be diagnosed by performing prenatal screening tests.

What are the methods of diagnosing Down syndrome before birth?

There are two types of prenatal tests to diagnose Down syndrome:

• Screening tests: these tests do not give you a definitive answer; But if the fetus has a high risk of Down syndrome, they will inform you.
• Diagnostic tests: These tests are very accurate and give you a definite answer. Diagnostic tests are usually prescribed to women whose fetuses are at high risk based on the results of screening tests.

Down’s syndrome can be diagnosed from how many months?

Down syndrome can be diagnosed from birth. The doctor can diagnose Down’s syndrome by looking at the baby’s face, body, appearance and movements. Some children, instead of having the outward Symptoms of Down syndrome, have a hairy spot or a hollow area at the end of the lumbar spine, which the doctor can detect.