General Practice 2022

SíDown syndrome: what é, featuresístics, causes and treatment

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SíDown syndrome: what é, featuresístics, causes and treatment
SíDown syndrome: what é, featuresístics, causes and treatment

Down syndrome is a genetic condition caused by an extra copy of chromosome 21, which causes a child to be born with some specific characteristics, such as a lower set of ears, slanted eyes and a large tongue.

This syndrome, also known as trisomy 21, arises from an incorrect cell division of chromosomes during the embryo's development, causing the child to have 47 chromosomes instead of 46. Learn about other characteristics of Down syndrome.

As Down syndrome is the result of a genetic change, there is no specific treatment. However, some treatments such as physical therapy, psychomotor stimulation and speech therapy are important to stimulate and assist in the child's development.

Key features

The most common characteristics of children with Down syndrome include:

  • Rounded face;
  • Small head;
  • Short neck;
  • Placed ears lower than normal;
  • Small mouth with protruding tongue;
  • Eyes slanted upwards, almond-shaped;
  • Broad hands with short fingers;
  • Weakness of muscles;
  • Presence of only 1 line in the palm of the hand;
  • Short stature.

Furthermore, children with Down syndrome may have a delay in cognitive and intellectual development, especially in skills such as speaking, walking, sitting, holding objects, or even learning difficulties. However, all children learn all these skills, although they may take longer than other children who do not have the syndrome.

However, children with Down syndrome do not always present all these characteristics, and the degree of difficulties may vary from case to case.

How to confirm the diagnosis

Diagnosis of Down syndrome can be made by the obstetrician during pregnancy, through the nuchal translucency exam, which should be performed between the 12th and 14th week of gestation, or ultrasonography, cordocentesis or amniocentesis. See other tests during pregnancy that can detect Down syndrome.

After birth, the diagnosis of Down syndrome is made by the pediatrician, through physical examination, analyzing the physical characteristics of the baby. However, these physical characteristics can also be found in children who do not have the syndrome, so the pediatrician recommends a genetic test to observe the presence of the extra chromosome and confirm the diagnosis.

Causes of Down syndrome

Down syndrome occurs due to a genetic change that causes an extra copy of all or part of chromosome 21 to occur. There are 3 types of changes in chromosome 21 that can lead to the development of Down syndrome:

  • Trisomy 21: this type of alteration is the most common in Down syndrome, and causes the child to be born with an extra copy of chromosome 21 in each cell that has, due to abnormal cell division during egg or sperm development;
  • Mosaicism: is a type of alteration that occurs due to an abnormal division of cells after fertilization, causing the child to have an extra copy of chromosome 21 only in some cells. Generally, the child with this type of alteration has fewer symptoms of the syndrome;
  • Translocation: is a rarer type of the syndrome, which occurs when an extra part or a complete copy of chromosome 21 is linked or translocated to a different chromosome., and can occur before or after conception.

Some factors may contribute to the risk of genetic alterations and development of Down syndrome, such as a family history of Down syndrome or pregnancy from the age of 35, as the likelihood of genetic alterations in older eggs increases from that age.

Treatment for Down syndrome

Down syndrome treatment aims to promote the child's development, promoting their quality of life. Therefore, physiotherapy, psychomotor stimulation and speech therapy sessions are recommended to facilitate speech and eating.

Babies with Down syndrome should be followed up from birth and throughout their lives, so that their he alth status can be regularly assessed, because this chromosomal alteration increases the risk of developing heart disease and respiratory disorders, sleep apnea or thyroid disorders.

In addition, the child may have some type of learning difficulty, but it varies from child to child. Then you can develop, study and even work. Life expectancy is currently over 40 years and during these years, people with Down syndrome may need specialized he alth care, which must be individualized, and may also be accompanied by other speci alties, such as cardiology or endocrinology, for example.

Watch the following video and find out which activities help to stimulate the baby with Down syndrome:

Most common he alth problems

The most common he alth problems in babies and children with Down syndrome are:

1. Heart defects

Heart alterations are common in Down syndrome and, therefore, the doctor can observe certain parameters even during pregnancy to know what cardiac alterations may be present, but even after birth they can be performed exams such as echocardiography to identify with greater precision what are the changes present in the heart, such as atrioventricular septum defect, for example.

Certain heart changes require surgery to correct, although most can be controlled with medication.

2. Blood problems

Children with Down syndrome have a higher risk of having blood problems such as anemia, which is a lack of iron in the blood, polycythemia, which is an excess of red blood cells, or leukemia, which is a type of cancer that affects white blood cells.

To combat anemia, the doctor may prescribe the use of an iron supplement, in case of polycythemia it may be necessary to have a blood transfusion to normalize the amount of red cells in the body. In the case of leukemia, chemotherapy may be indicated.

3. Hearing problems

It is very common for children with Down syndrome to have some alteration in their hearing, which is usually due to the formation of the bones of the ear, and therefore they can be born deaf, with reduced hearing and have a greater risk of have ear infections, which can get worse and cause hearing loss.The ear test can indicate from newborn if there is any hearing impairment, but it is possible to suspect if the baby does not hear well. Here are some ways to test your baby's hearing at home.

When the child has impaired hearing or, in some cases of hearing loss, the use of a hearing aid may be indicated, but in some cases surgery may be recommended to improve the ability to hear. In addition, whenever an ear infection appears, the treatment indicated by the doctor must be carried out to cure the infection quickly, thus preventing hearing loss.

4. Higher risk of pneumonia

Due to the fragility of the immune system, it is common for children with Down syndrome to be at greater risk of becoming ill, especially affected by respiratory diseases. So any flu or cold can turn into pneumonia.

For this reason, it is recommended that the child's diet be very he althy, to improve the activity of the immune system, in addition to taking all the vaccines at the recommended ages and going to the pediatrician regularly to be able to identify any he alth problem as soon as possible. before to start the appropriate treatment, and thus avoid further complications.In case of flu or cold, you should be aware if fever appears because this can be the first sign of pneumonia. Know how to recognize the first symptoms of pneumonia.

5. Hypothyroidism

A child with Down syndrome has a higher risk of having hypothyroidism, which occurs when the thyroid gland does not produce enough hormones, or none at all. This change can be detected during pregnancy or birth, but it can also develop throughout life.

It is possible to take hormonal medication to meet the body's needs, but it is necessary to have blood tests to measure TSH, T3 and T4 every 6 months to adjust the dose of the medication.

6. Vision problems

It is common for children with Down syndrome to have some visual alteration such as myopia or strabismus, in addition to being at greater risk of developing cataracts, usually with older age.

Therefore, you should consult an ophthalmologist, who may recommend exercises to correct strabismus, prescribe glasses or have surgery to treat cataracts.

7. Sleep apnea

Children with Down syndrome may have sleep apnea due to changes in the skeleton and soft tissues, making it difficult for air to pass through the airways during sleep, which causes episodes of snoring and short pauses in breathing while sleeping.

Sleep apnea treatment should be guided by the doctor who may indicate surgery to remove the tonsils or tonsils to facilitate the passage of air or indicate the use of a small CPAP device to put in the mouth to sleep. Learn about the necessary care and how to treat baby sleep apnea.

8. Changes in teeth

Children with Down syndrome may have some changes in their teeth, such as delayed development of the teeth that may appear misaligned, but in addition there may also be periodontal disease due to poor tooth hygiene.

After birth, right after each feeding, parents should clean the baby's mouth very well using clean gauze to ensure that the mouth is always he althy, which helps in the formation of milk teeth. The baby should go to the dentist as soon as the first tooth appears and regular appointments should happen every 6 months. In some cases it may be necessary to put braces on the teeth so that they are aligned and functional.

9. Celiac Disease

A child with Down syndrome may have gastrointestinal disorders, which increases the risk of having celiac disease. Thus, the pediatrician may request that the baby foods be gluten-free, and in case of suspicion, at around 1 year of age, a blood test can already be done that can help in the diagnosis of celiac disease. See how celiac disease is diagnosed.

Food must be gluten-free and a nutritionist will be able to indicate what the child can eat, according to their age and energy needs.

10. Spine injury

Some children with Down syndrome may have a misalignment in the spine, which increases the risk of injury, especially in the neck region, which in more severe cases can lead to paralysis of the arms and legs. This type of injury can happen when holding the baby without supporting its head, or while playing sports. The doctor should order an X-ray or MRI to assess the child's risk of having cervical spine problems and inform the parents of the possible risks.

In the first 5 months of life, care must be taken to keep the baby's neck safe, and whenever you pick him up, support his head with your hand, until the baby has enough strength to hold his head firm. But even after that happens, you should avoid somersaults that can cause damage to the cervical spine of this child. As the child develops, the risk of a spinal cord injury decreases, but it is still safer to avoid contact sports such as martial arts, football or handball, for example.

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