Down Syndrome – Causes, Symptoms, Treatment

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Overview

Down syndrome is a permanent condition in which a person is born with certain distinctive physical traits, such as flat facies, short neck, and a degree of mental retardation (pshychic retardation). Although Down syndrome is permanent, most patients can lead a normal, active life. With the proper care and help they need, children with Down syndrome can have spectacular growth and development and can grow up healthy and happy.

Most parents whose children have Down syndrome, have problems related to their child’s age:

- the specific problems of a newborn, often include getting emotional support and information about Down syndrome;

- the specific problems of a baby, often focuses on preventing colds and infections, also  various types of therapies may be tried, depending on the pace of growth and development of the child;

- the specific problems of early childhood, are usually in relation with the growth rate and development of the child which is typically slower than that of other children of the same age; the behavior, social skills, diet and exercise, as well as the prevention of current diseases will most likely be targeted;

- the specific problems of late childhood are heavily dominated by independence, social skills and education;

- the specific problems of the adolescents and young adults are often correlated with the transition to adulthood and future plans, such as home; there can also appear problems related to sexuality and human relationships.

 

Article Contents

Overview

Causes

Symptoms

General characteristics

Facial features

Associated diseases

Physiopathogenic mechanism

Risk Factors

Consulting a specialist

Watchful waiting

Recommended specialist doctors

Investigation

Treatment – Overview

Initial treatment

Maintenance treatment

Life expectancy

Prophylaxis

Home Treatment

Medications

Surgical treatment

Other treatments


Causes

Down syndrome is caused by the abnormal cell division, most commonly at the level of  the oocyte, before or at conception. Less commonly, abnormal cell division can affect spermtozoon at conception. The factors that cause cells to divide abnormally are not known.

The genes are grouped in the form of chromosomes. Normally, a child inherits 46 chromosomes,23 from each parent. After the abnormal cell division, from Down syndrom results an additional genetic material, usually an extra chromosome. Down syndrome is classified according to the specific way in which the extra genetic material is produced.


Symptoms

There are more than 50 characteristic features of Down syndrome. Each child’s symptoms vary in number and severity. However, many of these characteristics and features also occur in children who do not have Down syndrome.

The symptoms may include:

- Pain in the neck;

- The limitation of neck movement;

- Feeling of weakness in the arms and legs;

- Difficulty when walking;

- Modification of sphincter control.

 


General characteristics

Most children with Down syndrome have some of the following physical characteristics:

- Short stature: the child usually has a slower growth rate, and in adulthood, the height is less than the average;

- Low muscle tone (hypotonia): a child may have less muscle strength than other children of the same age; the low tone of the abdominal muscles also determines the protrusion of the stomach; normally, the stomach muscles of a the child gradually tone up around age of 2 years;

- Short, thich neck with adipose tissue (fat) and excess of skin: usually, this feature becomes less obvious as the child grows;

- Short and stocky arms and legs: some children may have a wider space between the hallux and the second toe of the foot;

- A single crease in the central part of the hand: this is called a transverse palmar crease or simian line.


Facial features

In Down syndrome are frequently found distinct facial features such as:

- Ears of a modified form: usually small and lowset;

- Abnormal mouth and tongue: the tongue of the child may partly protrude  and the palate can be very arched and narrow;

- Flattened nasal bridge: the flattened portion of the nose located between the two eyes (nasal bridge) is frequently clogged;

- Brushfield spots: a fragment of tissue on the colored portion of the eye (iris); these spots do not affect vision;

- Atypical and crooked teeth: the teeth of the baby may occur later and in an unusual way.


Associated diseases

Mosaicism is a type of Down syndrome in which extra genetic material occurs in some cells, while other cells develop normally. Mosaicism affects only 1% to 2% of people with Down syndrome. The risk factors for mosaicism are similar to those for trisomy 21.

 

Translocation type Down syndrome is the only form that can sometimes be directly inherited. However, most cases of  translocation type Down syndrome are sporadic genetic mutations (at random), of unknown cause. Only one quarter of the cases with translocation type Down syndrome are inherited. The translocation is about 3% to 4% of all cases of Down syndrome.

 

The child may have other diseases associated with Down Syndrom as well, such as:

- Level of intelligence under normal, which affects nearly every child with Down syndrome, but usually it is only mild to moderate, severe mental retardation is rare;

- Heart disease: about 50% of the children with Down syndrome are born with heart diseases; most are diagnosed at birth or shortly after it;

- Diseases such as hypothyroidism, celiac disease and eye diseases;

- Susceptibility to other medical problems such as respiratory infections, impaired hearing and dental problems;

Because in Down Syndrome we encounter different physical features, confusion of these symptoms with other diseases is very unlikely for medical staff.

In rare cases, mosaicism, a form of Down syndrome, can be confused with other inherited diseases or developmental disorders.


Physiopathological mechanism

Although Down syndrome is a challenge, most people with this condition can lead a normal, happy and active life. Many of the challenges are in relation with the cognitive dysfunction (mental retardation) and health problems. People with Down syndrome are prone to certain diseases  such as hypothyroidism or other health problems, such as hearing loss or respiratory infections.

 

The child can be helped to overcome these, as well ass other difficulties, in a climate of love and safety. He must be provided medical attendance regularly by a team of medical specialists. Also, It may be suitable for the child to have access to an environment proper for study, as well as other activities that encourage exercise and interaction with other children. The effects of Down syndrome usually change in time. Although the specific effects vary for each child, it may be useful to familiarize with some general aspects of Down syndrome.

 

Babies with Down Syndrome

Infants usually achieve growth and early development references (such as turning from side to side, sitting, standing, walking and talking) later than other children. They may need a special therapy, such as speech therapy (logopedia).

 

Children with Down Syndrome

Health problems and developmental disorders may contribute to the occurrence of behavioral problems. For example, a child may develop a challenging oppositional disorder, in part due to problems of communication or interpretation of the requirements of others. The patience with which parents must face the situation,  the educational and social opportunities, as well as the adequate physical activities, can be helpful in order to prevent or solve behavior problems. If a child has mental problems such as anxiety or depression, counseling and medical treatment may be necessary.

 

Adolescents with Down Syndrome

Puberty begins at about the same age as it does for other teenagers and young adults. It is recommended to know any eventual social difficulties and vulnerabilities that adolescents with Down syndrome may have. For example, teenagers with Down syndrome are susceptible to abuse, angry words and other types of aggression. They also may have more difficulty than others in dealing with strong emotions and feelings specific to the age. Sometimes these feelings can lead to mental problems, especially depression.

 

Teenagers often succeed in finishing high school, if their defaults are not severe. Professional schools are useful for many young adults, who can then learn how to work in a variety of places such as shops, restaurants or hotels.

 

Adults with Down Syndrome

Most adults with Down syndrome do well in society. Frequently they are employees, have friends and romantic relationships and participate in community activities. Men with Down syndrome are most often sterile and can not have children. Many women with Down syndrome can have children, but menopause usually installs early.


Risk Factors

Risk factors associated with Down syndrome are variable depending on its classification.

The factors that increase the risk for a child to have Down syndrome of the trisomy 21 type, the most common type (95% of cases) include:

- Elderly mother: pregnancy to women over 35, are at increased risk of having a child with Down syndrome of the trisomy 21 type, this risk increases continuously along with age;

- Elderly father: medical researchers investigate the link between the paternal age and the risk of having a child with Down syndrome; recent studies indicate the fact that if the father is older than 40 years and the mother older than 35, they risk to have a child with Down syndrome;

- Brother / sister with Down syndrome: women who already have a child with Down syndrome of the trisomy 21 type  have a risk of 1% of having a child with the same disease.

 

Carriers of translocated genes may be the persons who :

- have family history of Down syndrome: it is possible that the genes involved in translocation type Down syndrome  be passed to other family members who have this disease;

- have had other children with Down Syndrome: although translocation type Down Syndrome is most commonly a sporadic genetic mutation, if a person has a child with this disease, that person may be a carrier of the gene.

 

There are still plenty of unsolved questions related to the specific risk factors involved in Down syndrome. Until now, the researches have not revealed any environmental factor that may contribute to the development of the disease. Medical researchers do not know why sometimes abnormal cells divide and produce additional genetic material that causes Down syndrome.


Consulting a specialist

Medical specialist  advice is indicated as soon as possible and if the child or adult with Down syndrome presents behavioral problems. Frequently these problems, especially if they occurr in adults, are a reaction to medical or physical problems. We also recommend increased attention for signs of depression, anxiety or other mental problems.


Watchful waiting

Watchful waiting involves the observation and monitoring of the patient. During routine examinations, the doctor investigates the child for common diseases that sometimes may occur in Down syndrome. These visits to the medical center are also a good opportunity to check the need for some changes in the therapeutic plan.

 

A medical specialist advice is urgently needed  if the infant or young child with Down syndrome has signs which indicate:

- Intestinal blockage, such as severe abdominal pain, vomiting and possibly the distension of the stomach;

- Heart problems, such as blue discoloration of the lips and fingers of the hand, difficult breathing or sudden change in eating habits or walking;

- Any person with Down syndrome of any age who presents signs of neck bone dislocation (atlantoaxial dislocation); this state occurs after a trauma;


Recommended specialist doctors

The following specialists can diagnose and treat a person with Down syndrome:

- Pediatrician, including those who are specialized in development and behavior problems;

- GP;

- Doctor of internal medicine

- Genetic counselor;

- Medical assistance;

- Kinetotherapist

If complications appear, you may need a collaboration with other healthcare specialists as well.


Investigation

Tests before pregnancy

Genetic testing for Down syndrome can be considered when the future mother has a positive family history for the disease. Genetic testing can confirm whether the future parents are carriers of the translocation chromosome, which increases the risk for having a child with Down syndrome of the translocation type. However, these investigations do not detect the possibility of  Down syndrome of the trisomy 21 type, which is responsible for approximately 95% of all cases of Down syndrome. Genetic counseling may be useful in order to understand genetic testing is done, which is the significance of the results and what impact the result may have on the mother and family.

 

Prenatal screening (during pregnancy)

Screening (monitoring) tests do not diagnose Down syndrome, but rather provide information about the likelihood of the fetus having the disease.

Monitoring tests include:

- Fetal ultrasound: This investigation can detect signs of Down syndrome in early pregnancy; a fetal ultrasound image can show a higher prominence than normally in the back of the fetal neck; this prominence is detected by measuring the thickness of the skin fold in order to estimate the distance between the skin and the neck bones;

- Triple test of maternal serum: the triple test determines the quantity of the following substances in the mother:

- Alpha – fetoprotein (AFP)

- Human chorionic gonadotropin (hCG)

- Estriol (EU3)

- Maternal serum quadruple test: the test is called quadruple when a test for inhibin A is added; inhibin A is a protein produced by the fetus and placenta; the quadruple test can detect most cases of Down syndrome and has a lower probability than the triple test to provide false positive results;

- Another possibility of monitoring, which may be available, is represented by the combination of fetal ultrasound with a serological test, which measures the levels of human chorionic gonadotropin (hCG) and plasma protein A associated to pregnancy; this combined screening test proved to be as precise as a quadruple test in detecting Down syndrome, an advantage of this type of screening test is that it can be done earlier in pregnancy than other tests.

 

The monitoring investigations for Down syndrome as well as for other diseases require the consent of the applicants. Some women think that, knowing the chances of having a child with Down syndrome helps them be prepared for this possibility. Others prefer not to have any such information throughout the pregnancy. Also, the type of investigation, of monitoring which is practised depends on the mother’s intentions and preferences. For example, when the mother is concerned with the accuracy (precision) of the test but she does not agree with doing amniocentesis, the doctor may recommend her the combining of the fetal ultrasound with the serological testing during the first trimester, in addition to a triple or quadruple test during the second trimester.

 

Prenatal diagnosis (during pregnancy)

During pregnancy Down Syndrom can be diagnosed on the basis of a chromosomal analysis called aryotyping. This sample may be taken directly from the fetus or fro the placenta, using one of the following methods:

- Amniocentesis: this is usually done between weeks 15 and 18 of pregnancy or even later; the fluid surrounding the fetus (amniotic fluid) contains cells eliminated by the fetus that is developing. These cells can be tested for more than 100 types of defects associated with genetic (inherited) diseases including Down syndrome. The test is performed by inserting a transabdominal needle till the level of the uterus. It is collected about 30 ml of amniotic fluid and then examined. Amniocentesis has a risk lower than 1% of producing an abortion and a 99.8% accuracy in detecting Down syndrome. It usually takes about 2 weeks before amniocentesis results are obtained.

- Chorionic villus biopsy: this test is done earlier than amniocentesis, ideally between 10 and 12 weeks of pregnancy. Chorionic villi are tiny finger-like projections, located at the level of the placenta. The genetic material in chorionic villi cells is identical to that of fetal cells. A biopsy of these cells may provide the doctors with genetic information about the fetus.

The doctors can in this way tell whether the fetus is likely to have certain diseases such as Down syndrome, which is due to abnormal chromosomes. Chorionic villus biopsy is usually done transvaginally. The doctor inserts a speculum in order to slightly push off the vaginal walls, then a catheter is guided over along the cervix to the placenta. When the catheter is correctly placed,a sample of chorionic villi cells is taken. Less commonly, the villi chorionic cell sample is collected by inserting a transabdominal needle to the uterus.

The results of thechorionic biopsy are usually available within a few days.

Because there are risks associated with both amniocentesis and chorionic villi puncture, these investigations are not made routinely. However, they are usually made to pregnant women aged 35 years or more, because of the increased risk of having a fetus with abnormal chromosomes. Amniocentesis and chorionic villus biopsy are also recommended to women who had a triple or quadruple abnormal test, and to those who have a child with Down syndrome or those with a positive family history of the disease.

Fetal testing for Down syndrome is always the mother’s decision. The diagnosis of Down syndrome given in the early stages of fetal development, makes possible the option of interrupting the pregnancy. Mothers who disagree with the termination of pregnancy can be helped emotionally, and with the preparation for the special needs of the child. Genetic counseling can be helpful during this process. If the fetus is diagnosed with Down syndrome, your doctor may recommend fetal echocardiography to detect cardiac malformations and fetal ultrasound to detect digestive problems. Any suspected anomaly will be investigated after birth.

 

Postnatal diagnosis (after childbirth)

If Down syndrome was not diagnosed before birth on the basis of a karyotype test (using amniocentesis or chorionic villus biopsy), the common physical traits of the child at birth may accurately indicate to the doctors the presence of Down syndrome. However, signs may be subtle in newborns, according to the type of Down syndrome they have.

Generally, a preliminary diagnosis can often be given on the basis of the observation of physical features and on the basis of:

- the results of triple or quadruple testing (if available);

- Details about the medical history of parents;

- Physical examination of the child for other medical problems.

Also, a sample of blood will be taken from the newborn for the chromosomal analysis needed to confirm the diagnosis. The results of this investigation are available in 2 to 3 weeks.

Early detection

The investigations for Down syndrome during pregnancy (prenatal investigations), which require the consent of the mother, may be recommended if the mother:

- Is aged 35 years or more;

- Has a family history of Down syndrome or the partner has a family history of Down syndrome;

- Knows that she or her partner are carriers of the gene for Down syndrome of the translocation type.

The screening for Down syndrome is made with the help of the triple maternal test. Prenatal testing for a certain diagnosis of Down Syndrome requires karyotyping. The sample used for this investigation is collected by amniocentesis or chorionic villus biopsy. Genetic counseling provides a variety of information and it is useful in family planning. For example, couples who have a child with Down syndrome may use genetic counseling in order to determine the risk of having another child with this disease.


Treatment – Overview

A team of specialists will direct the treatment for Down syndrome on the basis of the symptoms and the unique physical problems of the child. Through close cooperation with these experts and others in the medical field, the child can be helped to become as much as possible, independent and lead a normal and beautifu life.

 

Regular checkups, helping the child to adapt to the changes in the physical and social environment, as well as the promotion of independence, are important parts of the treatment for Down syndrome.

 

To be retained!

- It must not be forgotten the fact that these children can tolerate a very high intensity of pain before expressing it or the may not be able to describe it very well; the first sign of disease may be a change in the child’s behavior

- There are several controversial treatments for Down syndrome, which are spread through various media devices or by word of mouth; it is recommended to consult medical specialists about these treatments before using them.


Initial treatment

It is absolutely normal that, when the child is born with Down syndrome, mothers should experience a variety of feelings. Even if during pregnancy they were informed about the disease of the child, the first weeks after birth are usually very difficult, because they are trying to get used with the diagnosis.

 

The confirmation of Down syndrome diagnosis requires karyotyping. After birth, the test is usually done on a baby’s blood sample. Until obtaining the results of this test, 2 or 3 weeks may pass. This delay can be extremely difficult, especially if previous test results were inconclusive, and the baby has only a few discrete features characteristic of Down syndrome.

 

The newborn with Down syndrome will have to do, in the first month, repeated medical examinations and various investigations. These tests are done in order to monitor the disease and early detect common diseases associated with Down syndrome and other health problems. These checks are a good opportunity to discuss the issues that worry parents.


Maintenance treatment

Physical examinations can give to the medical specialists the possibility to monitor the child for early signs of diseases usually associated with Down syndrome and other health problems. The doctors investigate problems specific to different ages, such as, cataract and other eye diseases, during the first year of life. It is recommended to request medical advice at periodic checks or whenever needed.

 

Ligamentous laxity seen in children with Down syndrome predisposes them to bone dislocations, especially in the neck (atlantoaxial dislocation). The doctors may require radiographies of the cervical spine, especially if the child wants to get involved in sport. Usually, radiographies are required just once. It may be necessary that some sports such as soccer, wrestling and diving, be avoided.

 

The attempts to teach your child to be independent, are influenced by the level of intelligence and his physical abilities. Though they may need more time in order for him to acquire and learn specific skills, the results can be surprising.

With proper encouragement and guidance, the child can acquire the following skills:

- Walking and other similar actions: infants and young children can be taught to flex their muscles through directed play; as the child grows, parents can work with a physiotherapist and the pediatrician in order to design an exercise program intended to maintain and increase muscle tone and physical abilities;

- Independent feeding: parents can teach their child to eat independently taking meals together; when teaching children how to eat this must be done gradually, starting with allowing him to eat with his hand and giving him to drink liquids with high viscosity;

- Dressing: the child can be taught to dress himself, if he is offered more time so as to be explained how to do it and practise it;

- Communication: gestures as simple as watching the child during speech or the revelation and naming of objects, can be useful for learning to speak;

- Care and hygiene: the child will be taught about the importance of being clean and looking good; the parents have to establish a daily routine for bathing and care; as the child grows, this will gain an ever increasing importance; he will gradually add new steps to his life, like using deodorant.

 


Life expectancy

More than half of the people with Down syndrome, live over 50 years. Approximately 13% of people with Down syndrome have a life expectancy of over 68 years. In addition, improved treatments and well organized support groups have helped people with Down syndrome to live longer and better. However, keep in mind that a child with Down syndrome has a life expectancy lower than the normal one.

 

The diseases and related health problems can sometimes be severe and can cause premature death. For example, cardiac malformations can sometimes lead to heart failure or other serious problems that shorten life. Regularly scheduled medical examinations are useful in identifying the treatment and monitoring these problems.


Prophylaxis

There is no prophylaxis for Down syndrome. However, pregnant women who know they will have a child with Down syndrome, can prepare for the special needs of the child by:

- Finding a doctor experienced  in caring for children with Down syndrome;

- Information about Down syndrome; it is always recommended to consult libraries and bookcases in order to learn more about Down syndrome;

- Participation in meetings of support groups, communication with other parents who have children with Down syndrome may be useful in dealing with difficult feelings; it is also useful not only to know the possible problems that may occur, but also to discover the joys that other parents have had with their children.


Home Treatment

The parents of children with Down syndrome have an important role in helping their children reach their full potential. Most families choose to raise their child, while others prefer to put their children up for adoption. Support groups and organizations, can help parents take the right decision for their family. Being a parent of a child with Down syndrome, involves a lot of challenges and frustrations and frequent changes of mood – all of which can lead to burnout. It is recommended for parents to take care of themselves, so that they have the power to be by the child’ side and to meet his needs.

 

Development and acquisition of basic skills

Parents need to be patient and to encourage their children as they learn to walk or reach other parts of the development, such as turning from side to side, sitting, standing and talking. It is likely that these guidelines are to be achieved in a longer time than other children, but their results can be as significant and surprising.

 

It is recommended to integrate the toddler ( of about 3 years) in an early intervention program. These programs have a staff specialized in monitoring and encouraging the child’s development. It is recommended to consult health professionals about the available programs in the area. Learning basic skills such as learning to eat by themselves and dressing independently, involves more time for children with Down syndrome.

 

While children are taught these skills, a positive attitude must be maintained. We must create opportunities to practise and should accept the fact that it is better for children to be subjected to challenges, even if they are sometimes wrong. The child’s development can be promoted through positive attitude and through various learning and social opportunities. The child’s cognitive skills can be stimulated by making sure that the tasks required are not too difficult.

 

Difficulties at school

Most children with Down syndrome can attend a normal school. An adapted study program may be needed, and sometimes a special school. Parents should be involved in the child’s education. Disabled infants, as well as those with Down syndrome, have the legal right to education. These laws protect also the rights of parents to be well informed about the educational decisions concerning the child.
 

Specific problems of adolescents and young adults

Reaching puberty, proper care and hygiene are very important. Self acceptance and self-esteem are influenced by how the young teenager or adolescent is related to them.

From a social perspective, adolescents and adults with Down syndrome have the same needs as any other person. Most of them will want to go on dates with their girlfriend / boyfriend, to socialize and maintain intimate relationships. The adolescent can be helped to develop harmonious social relations, if instructed to learn the appropriate behavior and social skills. He will also be encouraged to participate in school and community activities. Providing opportunities to form harmonious friendships, is critical to the happiness and existential meaning of the teenager. However, parents should be aware of the difficulties and social vulnerabilities that the child faces.

The preparation of the teenager for harmonious social relations and the eventuality of an intimate relation must be made early in his life:

- The teenager will be trained to respect his own body and other bodies as well

- Parents should talk openly about their own beliefs and ideas

- The adolescent will receive sex education presented in a realistic way that he can understand; and will be informed about the intimate and reproductive aspects of sex

- He will be informed about birth control methods and the sexual protection to prevent  sexually transmitted diseases (STDs).

Plans for the future home of the child will begin as early as adolescence. Most adults with Down syndrome have an independent living, in community homes or apartments that receive supportive services. However, most homes and community centers requires a minimum degree of independence, such as the ability to eat, to dress and to bathe alone.

An adult with Down syndrome can work away from home and has access to social activities. An active lifestyle involving a continuous learning process, makes everyone, including the person with Down syndrome, feel more confident about the meaning of life and more tonic. One option may be the special care service for adults, or Special Olympics Games or any other activity that focuses on exercise. Interests such as art or hobbies, such as drawing, should be encouraged.

It must be accepted the fact that the adolescent or adult with Down syndrome has an increased risk of depression, especially after a loss such as the death of a family member or a major upset during the daily routine. A change in behavior is often the first sign. If signs of depression appear, it is recommended to counsel the young adult.


Medications

Drug therapy is not used to treat Down Syndrome. However, drugs are used in order to treat other diseases associated with Down syndrome or other health problems that may occur, for example antibiotics for ear infections or thyroid hormones for an underactive thyroid gland (hypothyroidism).


Surgical treatment

There is no surgical treatment for Down syndrome. However, surgery may be necessary to correct certain defects caused by the associated diseases such as heart defects, intestinal blockages or problems of the spine. The use of plastic surgery to normalize facial features associated with Down syndrome is controversial, involves some risk and it is generally unsuccessful.


Other treatments

A child with Down syndrome may require also additional therapy, counseling or special training. The parents and other persons involved in care, may need assistance in planning a secure future for the family member with Down syndrome. Different types of therapy, such as speech therapy, are often used to help people with Down syndrome to learn the basic skills and be independent as much as possible.

 

The families of children with Down syndrome may require other resources as well, such as:

- Financial assistance: children with Down syndrome have needs that could create special expenses for the family.

- Wealth management: it is advisable to familiarize with the problems related to taxes and wealth management, because in the case of the death of parents, the necessary available resources and a proper care of the child should be provided; if parents have other children who developed normally, they have to include them in the future planning of the child child with Down syndrome

- Family counseling: This therapy involves regular sessions with a qualified counselor who has experience in tackling with families that have children with Down syndrome.

There are several controversial treatments for Down syndrome (including nutritional supplements, surgery and drugs) that either were proved unuseful or have questionable benefit. Before using these treatments it is recommended to request medical advice.

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Comments

  1. My ñame is khon Samol I lived in Cambodia I have a big problem that was happen in my poor family because of my son have a down syndrome but his heart is ok but lung has a problem so you can help me to find a solution me or you can get my son for adopt because of I am poor . Thank you

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