During fertilization, the sperm and egg join together, resulting in a cell with a total of 46 chromosomes. Then, that cell divides, giving rise to a new clone cell, with all the characteristics of the original cell. In this way, normal embryo development occurs. When the original cell ends up having 47 chromosomes, all the following cells will also have 47 chromosomes.
It is important to note that, although it is currently known how the syndrome occurs, there is no evidence of what causes the change. Therefore, in most cases, it is not possible to say why a child is born with the syndrome.
The types of Down syndrome differ in how and when non-disjunction occurs, that is, when the extra chromosome appears. Understand:
Simple trisomy
In simple trisomy, non-disjunction occurs in the egg or sperm, causing the cell to have 24 chromosomes, as opposed to 23. When fertilization occurs, a cell with 47 chromosomes occurs, which multiplies and forms the embryo.
It is the most common type of Down syndrome and there are no specific causes for this to occur.
Translocation
Translocation occurs when the individual has two complete chromosomes 21 and a piece of a third chromosome 21 attached to another pair, usually 13, 14, 15 or 22.
This happens when the father or mother has, instead of the two complete chromosomes of the 21st complete pair, one of the complete chromosomes in the right place, while the other has come loose and stuck to another pair (again, 13, 14, 15 or 22 ). In these cases, the parent does not have the syndrome because, despite the wrong location, it has the right number of chromosomes in the cells.
When passing your genetic material to the child, normal cells (with two chromosomes in the 21st pair) join the altered cells (with one chromosome in the 21st pair and a part in another pair), adding up to a total of 3 chromosomes 21: 2 in the 21st position and another in some other part of the genetic code.
This type has a bit of a hereditary factor, but that does not constitute a cause for the condition. It occurs in about 3.5% of the population with Down syndrome.
Mosaicism
Affecting only 1.5% of individuals with the syndrome, mosaicism occurs when the individual has both cells with 46 chromosomes and cells with 47. This happens when, during the formation of the embryo (after fertilization), there is a non-disjunction, giving rise to a cell with 47 chromosomes.
Thus, some cells will be copies of the original cells, with 46 chromosomes, while others will be copies of the altered cell, with 47.
In these cases, the manifestations of the condition may be milder, but this is not a guarantee, since, depending on which part of the pregnancy there was non-disjunction, the individual may end up having a large number of altered cells.
Risk factors
The biggest risk factor for Down syndrome is the mother’s age . This is because women are born with the eggs formed, and the older, the greater the risk of making an error during the division of chromosomes.
At 35, a woman’s chance of having a child with the condition is 1 in 350. At 40, those chances increase to 1 in 100, and at 45, the risk is 1 in 30.
Even so, it is important to remember that most babies with DS are born to mothers under 35 years of age, as it is at this age that they have the most babies.
Other factors are already having a child with Down syndrome or having a translocation of the gene 21 .
Symptoms and characteristics of individuals with Down syndrome
There are physical characteristics typical of Down syndrome, but it is important to note that not all individuals have these characteristics , as well as they can present them in different intensities.
Many people believe that individuals with the disorder are physically similar, which is not true. Most of the time, they look more like their family than other people with the syndrome, even though they have physical characteristics in common. Therefore, it is a myth.
Some physical characteristics present are:
- Head smaller than normal, with the posterior (back) flattened, giving the impression of a rounded face;
- Larger fontanelles, which take longer to close, as well as a false fontanel in the sagittal suture (where the two parietal bones of the skull meet);
- Straight and fine hair, color inherited from the parents, as well as partial alopecia (hair flaws) or total (without hair);
- Undeveloped facial bones, giving the impression of flattened face contour;
- Small nose, sunken nasal bone, narrow nasal passages;
- Eyes with lateral inclination, almond shaped, with the fold of the inner corner “pulled”, similar to the oriental eyes;
- Small ears, at a lower level, with folded top edge;
- The ear canals may be small;
- Small mouth, which can be constantly open, so that the tongue protrudes outward;
- Narrow palate (palate);
- Delay in the eruption of baby teeth, as well as the lack of some teeth;
- Overlapping teeth due to small jaw;
- Wide neck, with redundant skin on the nape of the neck;
- Protruding abdomen;
- Sternum (pectoral) bone sunk or protruding (dove breast);
- Small hands and feet;
- Lack of a phalanx on the little finger, it can occur on the hands and feet;
- Large space between the hallux (big toe) and other fingers;
- Weakened articular ligaments;
- Hypogonadism (small genitalia);
- Sterile men and women with irregular periods of ovulation.
Cognitive skills
Not only are physical characteristics influenced by Down syndrome. It is known that the cognitive abilities of individuals with the syndrome are slightly lower than the average, since the nervous system of these people has structural and functional abnormalities, which can characterize mental retardation from mild to moderate.
However, this does not mean that they are not able to learn, go to school, graduate from college and work. The severity of cognitive impairment varies widely from person to person, however, it is known that cognitive development is also greatly influenced by education and the environment in which the child grows up.
In short, the stimulation of cognitive processes in individuals with Down syndrome can improve these abilities, causing their IQ to be higher than expected. It often reaches 82, as opposed to the average IQ of 62.
Comorbidities and complications
Often, Down’s syndrome is accompanied by several diseases, or at least the ease of developing them.
Heart Diseases
First, it is common for children with DS to suffer from some heart disease (heart disease). About 40% of individuals with the condition have some malformation in the heart and this is the main cause of death in these children, especially in the first years of life. Fortunately, there are surgeries that, when performed successfully, greatly increase the life expectancy of these individuals.
Gastroenterological malformations
They are common and occur in about 12% of cases. The most common is duodenal atresia, but children may also have pyloric stenosis, Hirschsprung’s disease and tracheoesophageal fistulas. These conditions facilitate the development of gastroesophageal reflux.
Hypotonia
In newborns, hypotonia (flaccid musculature, characterized by muscle weakness) is frequent, causing complications such as difficulty breastfeeding and constipation, due to the weakness of the intestinal musculature.
Insanity
Due to intellectual limitations, people with Down syndrome have a higher risk of dementia, with symptoms that begin as early as 50 years of age. There is also an increase in the chances of developing Alzheimer’s disease.
Other complications
In the eyes, these individuals may have cataracts and glaucoma . At the dental level, the teeth are usually small and with irregular spacing. The presence of a protruding tongue makes breastfeeding and speech difficult.
There is also a greater chance of developing hypothyroidism . Due to low cellular immunity , infections such as otitis may become more frequent, as well as hypertrophy of the adenoids and tonsils. Nevertheless, cases of leukemia are common in individuals with DS.
Malformations in soft tissues and bones can result in greater chances of obstructive sleep apnea , a condition in which the individual stops breathing and returns repeatedly during sleep.
It is not uncommon for individuals with DS to suffer from celiac disease , an immune reaction to eating gluten (found in grains such as wheat, barley and rye), which greatly limits their diet.
Boys may suffer from male hypogonadism, while girls may have female hypogonadism and amenorrhea (no menstruation or irregular menstruation).
People with DS have a greater tendency towards obesity and a lower incidence of cancer .
How is Down’s syndrome diagnosed?
The diagnosis of the syndrome is usually made after the baby is born. However, in cases of greater chances, prenatal screening can be done, together with a gynecologist or obstetrician , which indicate the chances of the baby being born with the change. Know more:
Prenatal screening
In general, prenatal screening tests are already part of the pregnant woman’s routine.
The following tests are not able to accurately diagnose the syndrome in the fetus, but they can give a better idea of the possibility of the baby having any changes:
Combined test in the first quarter
During the first quarter, an exam is done in two parts:
- Blood test: To determine abnormal levels of plasma protein associated with pregnancy (PAPP-A) and the human chorionic gonadotropin hormone (HCG), which may indicate a problem in the baby;
- Nuchal translucency: Using ultrasound, this test examines a specific portion of the baby’s neck area, where fluids usually lodge when there are abnormalities.
From the results of this test, as well as the mother’s age, the doctor can tell what the chances of the child being born with Down syndrome.
Integrated screening exam
When the pregnant woman performs the combined test in the first trimester, she can perform an integrated exam in the second.
In this exam, a blood sample is sent for analysis, where the levels of 4 substances related to pregnancy are examined: alpha-fetoprotein, estriol, chronic human gonadotropin and inhibin A.
By integrating the previous results with the new ones, one can have a better sense of the baby’s chances of having any changes, in addition to debunking false positives.
Fetal free DNA
After 10 weeks of gestation, some of the baby’s DNA can be found in the mother’s circulation. Thus, taking some of the pregnant woman’s blood, one can search for this DNA and analyze it in order to find the trisomy.
It is a more specific test for Down syndrome, which can deliver more accurate results than other screening tests.
Diagnostic tests during pregnancy
When the results of prenatal screening are worrying, diagnostic tests can be performed during pregnancy. Are they:
Amniocentesis
A sample of the amniotic fluid is taken, through a puncture in the uterus, for the fetus’ chromosomes to be analyzed. It is usually done in the second trimester, after 15 weeks of gestation. This examination carries a small risk of miscarriage.
Chorionic villus biopsy
In this exam, a small sample of the cells of the placenta is taken for analysis of the fetal chromosomes. It is usually done in the first trimester and is more likely to miscarry than amniocentesis.
Cordocentesis
Cordocentesis consists of taking a sample of cord blood, which is analyzed for chromosome defects. It should only be done after the 18th week of pregnancy, when the results of previous exams are inconclusive. This is because it has a high risk of miscarriage .
Diagnosis in newborns
At first, the diagnosis in newborns is made through their physical characteristics. However, some characteristics can also be found in babies without changes and, therefore, the doctor may order a karyotype , a representation of the chromosomes of a cell.
Through a blood sample, mononucleated cells can be separated, which are used for in vitro proliferation. These cells are placed in a hypotonic solution under a slide, where they leave the chromosomes scattered. After taking microscopic photos of this slide, chromosomes are classified by size, position, among other characteristics, and organized into homologous pairs.
When, in these diagnoses, 3 chromosomes 21 appear, or 2 chromosomes 21 and another part of 21 “stuck” on another chromosome, the Down syndrome is diagnosed.
Does Down syndrome have a cure? What is the treatment?
Because it is not a disease, Down syndrome has no cure . When the individual is born with this alteration, it does not disappear. However, due to the limitations it can cause in the patient’s life, there are several interventions that can be made in order to improve their quality of life.
In general, such interventions are related to the monitoring of possible comorbidities, as well as therapies to improve the person’s development. Therefore, they should start in the first months of life.
Palliative care
According to the World Health Organization (WHO), “palliative care” refers to assistance provided by a multidisciplinary team, with the aim of improving the quality of life of a patient in the face of a life-threatening disease.
When it comes to Down’s syndrome, palliative care is not related to a disease that puts the patient at risk, but consists of screening for possible complications that can bring suffering to the patient, preferably before they fully manifest.
For palliative care to be done correctly, the patient needs a multidisciplinary team consisting of cardiologist, gastroenterologist, endocrinologist, neurologist, otorhinolaryngologist, ophthalmologist, speech therapist, occupational therapist and physiotherapist. In addition, some may need psychiatric and psychological treatment.
What care and treatment the patient should receive depends largely on how the patient is affected by the syndrome. There is no definitive guide to doctors and remedies that the patient will need throughout his life, since each individual has his particularities.
Despite the difficulties in finding a unified treatment, several research centers and organizations related to the condition, such as the American Academy of Pediatrics , seek to provide general guidance to parents with children who were born with the syndrome. Understand:
Fetal echocardiogram
Since many babies with DS have congenital heart diseases, the fetal echocardiogram , performed during pregnancy, can help diagnose possible heart problems, as well as plan subsequent interventions at birth, when necessary. The examination is performed by a pediatric cardiologist using an ultrasound device.
Complete physical examination
When the child was diagnosed in the prenatal period, checking the physical characteristics typical of the syndrome can confirm the diagnosis. In some cases, when the condition has not been known since pregnancy, this test may raise the suspicion and thus the baby will need to undergo tests, such as the karyotype, to confirm the change.
Breast-feeding
While breastfeeding is highly recommended, it is not uncommon for these babies to have muscle problems, such as weakness, that prevent proper nutrition. Thus, a pediatrician should be sought in search of alternative breastfeeding techniques.
Growth monitoring
Children with DS do not always grow up the same way as children without the genetic alteration, so monitoring should be done taking into account other patterns.
In this monitoring, the doctor (general practitioner and / or pediatrician) must analyze the height, weight, body mass index and head circumference, which can be changed due to problems related to food or hormones.
Check-ups
Regular visits to the doctor (check-ups) should be done frequently, just as people without Down syndrome do. Such visits are made to assess the patient’s general health status, in addition to prescribing possible vaccines and medications.
Heart
Even if there was no suspicion of cardiac problems in the prenatal period, it is important to perform an echocardiogram on the newborn in order to confirm that there is really no problem. Often, these children have congenital heart diseases that are not shown on the fetal echocardiogram.
Although the first exams do not always show any type of cardiac anomaly, it is important that there is medical monitoring of the heart, since several problems can appear in the course of the individual’s development.
Worrying signs that may be related to heart problems are very rapid breathing and cyanosis (bluish skin).
Vision and hearing
Because of the syndrome, many children are born with hearing and / or vision problems. Therefore, it is important to consult an ophthalmologist and speech therapist in order to check the function of the eyes and ears.
When a problem is found, the patient must perform the appropriate treatment for his condition, following the doctor’s instructions, as well as follow-up, for the rest of his life. Still, even if there are no problems at first, it is important that the patient comes back to these specialists more often to avoid further complications.
Vaccination
Due to the immense amount of disease-causing microorganisms, even more attention should be given to vaccination in children with DS. They must be immunized against Influenza, as well as taking all vaccines available to children and adults.
Thyroid
Hormone levels can be low, which can indicate thyroid problems. The TSH test can indicate any problem related to this gland, which must be treated to prevent further complications.
Problems such as hypothyroidism can occur at any time in an individual’s life and, therefore, the test must be repeated frequently.
Bloodtests
In order to diagnose any blood-related disorder, the individual can perform a complete blood count , which counts white and red blood cells and other important blood components.
These tests should be done from the first month of life, in order to prevent future complications.
Digestive system problems
Individuals with DS may suffer from constipation, gastroesophageal reflux, among others. Therefore, it is important to check the possibility of major complications in the digestive system.
Infections
Due to the increased risk of contracting infections, especially in the respiratory system, babies with the syndrome should be kept away from sick relatives, in addition to being taken to the doctor quickly at the sign of any infection.
Adults should also take the necessary precautions to avoid contamination, such as washing their hands frequently and not sharing personal items.
Neck instability
Due to problems in the neck joints, the bones of the spine, especially in the cervical part (neck), may show instability, causing the child to have problems maintaining an upright position and / or the head still.
In general, imaging tests are not requested unless there is pain. To treat the problem, physical activities can be prescribed, as well as physical therapy, in more severe cases.
Teeth problems
Dental health in patients with Down syndrome is usually good – as long as care is taken – however, teeth can take a long time to appear in children, in addition to being born out of a specific order. In addition, it is common for the dental arch to be irregular.
Sleep disorders
It is common for people with the syndrome to suffer from sleep apnea , a dysfunction of breathing while sleeping. This complication can affect the quality of sleep and the heart.
Although there are several symptoms of apnea that are clearly visible, many do not show any symptoms and, therefore, it is important to note whether the individual wakes up a lot during the night, is very sleepy during the day, moves a lot while sleeping or sleeps in unusual positions. Other common symptoms are loud breathing and snoring.
Brain and nervous system
It is extremely important that the patient is accompanied by a neurologist when he presents neurological symptoms, especially seizures .
Sexuality and puberty
Like any teenager, individuals with DS who reach puberty have all the problems related to it. It is important that parents are ready to talk about issues such as sexuality.
While boys are usually sterile, girls can suffer from irregular menstruation. The ideal is to consult a gynecologist to better manage this phase.
Behavioral problems and mental health
Some individuals with DS may suffer from behavioral problems and impaired mental health , which is reflected in the school and professional performance of these individuals, as well as in interpersonal relationships.
It is recommended to seek a specialist when the patient has anxiety , hyperactivity, stops paying attention, does not hear what is being said, has problems related to attention, sadness or unwillingness in his own interests and activities, in addition to obsessive compulsive behaviors (which are repeated frequently) and other behavioral problems.
Therapies and Development
Due to the delayed development in most patients with Down syndrome, several therapies can help to do this in the best way.
Some of the activities that are very striking in child development and that may take a little longer among children with Down syndrome are:
- Sit alone: without Down – 4 to 6 months. With Down 10 months;
- Crawling: without Down – about 8 months. With Down – 11 months;
- Walking alone: without Down – about 9 to 18 months. With Down – between 20 and 26 months;
- Speak: without Down: before 2 years old. With Down – around 3 years old.
- Dressing alone: no Down – between 3 and 5 years old. With Down – between 3 and 8 years.
Physiotherapy and psychomotricity
For a better development of motor skills, physiotherapy can help the baby learn to sit, crawl, stand, among others – depending on the child’s age.
This development is important because, for the child to have a good knowledge of the world and form his identity, he needs to be able to move. This ability also stimulates cognitive processes, language skills and social development, since the movement makes it able to interact better with the world.
Already the psychomotor is characterized by the integration of motor and mental functions. It is a type of therapy that involves, in addition to the development of motor skills, the ability of an individual to express himself through movement, inserted in a psychosocial context.
This type of therapy focuses on aspects of global motricity, balance, spatial organization, body layout and response to visual, auditory and tactile-kinesthetic stimuli.
Speech Therapy
The accompaniment of a speech therapist can help in the speech and communication of the child who was born with Down syndrome. Even if most babies do not learn to speak before the age of two, this therapy can help them learn nonverbal forms of communication.
Most individuals with DS learn to speak and are able to communicate verbally. However, some people may have hearing impairments, partial or total, that can benefit greatly from this treatment.
During therapy, children develop their visual, auditory, tactile, oral (tongue and lip movement) and cognitive skills better, such as understanding the permanence of an object (notion that an object exists even when one is not looking at it) and cause and effect relationships.
It is worth mentioning that, in general, individuals with Down syndrome understand more than they express .
Occupational therapy
Occupational therapy is an area specialized in improving the independence of people with some type of limitation.
In the case of people with DS, occupational therapy works with motor skills, self-care (eating, dressing, getting dressed, etc.), in addition to skills related to the school environment and leisure time.
In general, occupational therapists work side by side with physical therapists, complementing what is missing. While physical therapists are more concerned with gross motor skills (related to body control, balance, posture, displacement, etc.), the occupational therapist seeks to develop fine motor skills, consisting of highly accurate movements, such as manipulating objects.
Through occupational therapy, the child learns skills to become self-sufficient in various everyday situations, such as at school, at home or even at work, in the case of older individuals.
What is the life expectancy of an individual with Down syndrome?
At the beginning of the 20th century, the life expectancy of individuals who were born with DS was no more than a decade of life. Fortunately, today, due to technological and medical advances, individuals with this condition can live for another 60 years with quality.
Myths and truths about Down syndrome
There are many myths about Down syndrome, especially due to the lack of information. Although many people are curious, not everyone feels comfortable asking questions, for fear of offending the individual with DS and / or their parents.
So here are some myths and truths related to Down syndrome:
Speech, language and communication
Contrary to what many people think, those born with Down syndrome can speak normally , unless there is some other physiological barrier (problems in the vocal folds, for example). What happens, in fact, is that there is often a delay in language development.
Children with DS learn to speak later than others – which does not mean that they will not learn or that they do not understand what is being said. In fact, you never know when the child will be able to start speaking and how the language will develop, but it is wrong to believe that, because of this, the child will not speak.
In addition, there is another myth that says that people with DS cannot communicate by any means other than speech. This is a lie, since, often, the first way of communication that they learn is non-verbal.
Locomotion
As with speech and language, children with Down syndrome can walk , they only learn later.
There are cases in which malformations in the legs or hips may cause the individual to need a wheelchair, but these are isolated cases and do not represent the majority of the population with DS.
Personality and affective characteristics
Many believe that the individual with Down syndrome is naturally affectionate, but this is just a myth. The formation of personality and affective patterns of the person with DS occurs in the same way as in a person without the syndrome.
Due to the low average IQ, people assume that those with DS preserve childhood characteristics, such as affection and joy. However, this is not quite true. One individual with DS may be especially affectionate, while another may be more introverted and prefer to avoid contact with other people.
Reducing someone’s personality to the condition is a mistake, since it is not a psychopathological disorder (and, even in these cases, this reductionism is not correct). People need to learn to see the being behind the syndrome: a person with personality, dreams and aspirations, just like anyone else.
Sexuality
There is a myth about the sexuality of those born with Down syndrome: they have the most sexuality out there. This is clearly not true.
Like anyone, these people arrive at puberty and want to better understand their bodies and their relationship with others. However, due to the condition, society does not usually consider their sexuality, with little sexual education for these people. Thus, they often find barriers to talking about sexuality.
As a consequence, their bodies are censored, there is repression by society, which can culminate in inappropriate sexual behavior. However, this can happen to anyone, depending on the environment, and not just people with DS.
Frequent illness
People with Down syndrome are said to fall ill more easily, and this, unfortunately, is true . Due to malformations and low immune resistance, it is not uncommon for these children to become ill more often than others, especially in the respiratory and digestive systems.
Still, it is worth remembering that this propensity decreases as the individual gets older.
School and work
Although it seems true, people with DS do not always need to attend a special school . Many of these children are able to keep up with normal school, just as others need special care – especially those with hearing and visual problems, among others.
There may be a greater difficulty in following some subjects, due to the specific learning profile of these children, however, when the teacher respects the differences, the student graduates from normal school without major problems, despite the difficulties.
It is worth mentioning that there is no exact age for children with Down syndrome to enter school. This should happen when it is convenient for her and her family.
Finally, some choose, after school, to take a course at a higher level and, not infrequently, to work. People with DS are able to work, just like anyone else, and the biggest obstacle for them is simply prejudice and lack of information.
Sports and physical activities
Due to low muscle tone, it is believed that people with DS cannot practice physical activities or sports. The truth is that they can and should do this, because, as for anyone, the practice of physical exercises brings well-being. In addition, physical activities help to reduce the possibility of obesity, a trend in people with Down syndrome.
Some people may have difficulty because of muscle weakness, or even malformations that make some types of sport unfeasible. However, in these cases, it is enough to consult a physiotherapist or specialized trainer, able to pass an exercise routine consistent with the patient’s reality.
Living with Down syndrome
For many, living with DS seems to be a challenge, but each difficulty can be overcome with patience and dedication. Although many parents are frustrated by the news that their baby has the syndrome, it is important to note that this does not mean that the individual will never have a good quality of life, independence and personal fulfillment.
Some tips for better living with the condition are:
Take time to think
The news that your child has a genetic alteration is always striking, especially when it may be accompanied by major limitations. So, take time for yourself to think and accept, before you even tell family and friends.
Have hope
Upon learning that their child has Down syndrome, many parents end up with negative perspectives, failing to believe that their child can learn and be independent like other people. This type of thinking makes the parents not realize the possibilities and ends up limiting the resources to which the child has access.
Always keep in mind that cognitive and motor skills can be developed and much of this depends on the parents and the environment in which the child is involved. So it is important that parents always have hope and never stop trying to help their child, even with difficulties.
Join a support group
You are not alone. There are many other parents with children in the same condition, and contacting them can help you live better with the disease. There are several benefits to exchanging ideas with other families, such as renewing hopes and exchanging experiences. In addition, identification with the other helps to support psychological pain.
Plan your child’s future
Do not think that just because your child was born with DS, it means that he does not have a bright future. He has! But, for this, it is important that parents do not give up to insert him in society, let him attend normal school and encourage the search for job opportunities or higher education when the child leaves school.
People with DS also have relationships, get married and can have a family. Don’t give up on your child’s future at any time.
Always seek to know more
One of the best ways to fight the fear that something bad will happen to your child is to get more information. Understand the condition, its manifestations, associated risks, among others. Read articles and stay tuned for news regarding Down syndrome, as technological advances can bring new ways of facing the condition.
Encourage your child
In addition to development aid through therapies (physiotherapy, occupational therapy, psychotherapy, among others), parents should also encourage their children at home, with games and games that help in the development of cognitive skills.
Maintaining coexistence in society makes the transition to adolescence and adulthood less complicated, as the individual with DS will already be used to the community. By depriving him of this, keeping him at home and making him attend special schools, it is likely that, in the future, he will find it more difficult to get a job and be part of society normally.
Appreciate yourself
Always remember that it is not your fault that your child was born with DS and that everything you do for his good is important and beautiful. Don’t forget that raising a child is difficult, especially when there are limitations, and you are doing it very well. Acknowledge your strength and skills.
Don’t forget your role as a parent
Being a parent means taking care of someone, but the problem starts when the parents just take care of the child, without giving them what they need most. Like every child, those born with Down syndrome need affection, love and understanding, things that a caregiver cannot give.
Support programs
Some states and countries offer special programs to fund family expenses with an individual with DS, as well as medications and accessories when needed.
How to prevent Down syndrome?
There is no way to prevent Down’s syndrome in most cases, and only the translocation type can be prevented if the mutation is already known in one of the parents. This is not very common, as most parents only discover translocation after having a child with DS.
To prevent the condition, in this case, the gametes (eggs or sperm) are separated without translocation and fertilization takes place in vitro , that is, outside the mother’s body. Only then is the implantation of the egg in the uterus.
If we think that the mother’s age influences the chances of having a child with DS, having children earlier is a way of preventing it. However, there is no way to be sure, as the condition continues to happen, even with mothers under 35 years of age.
There is a lot of prejudice and misinformation involving Down syndrome, but that must be changed. If you think this text helped you to better understand the condition, share it with your friends!
