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Know more about Down syndrome

The Down syndrome federation of India (DSFI) - Chennai has compiled  frequently asked queries and concerns raised by parents and caregivers of persons with Down syndrome. 

Note :  DSFI, is a parent support group started by Dr. Surekha Ramachandran in order to help persons with Down syndrome and their families to come to terms with Down syndrome and help them lead a more independent life.The FAQs have been compiled from the following links, and can also be accessed here - http://www.downsyndrome.in/faq.php and  http://downsyndrome.in/Guide_to_Parents_and_Carers.pdf. The content in this section has been published on this platform with prior permission from DSFI.

We have also gathered and included below some common concerns from parents which have been addressed by leading experts in the field of child development. 

 

 

 

What is Down syndrome?

Down syndrome is the most commonly occurring chromosomal abnormality, resulting when an individual possesses three, rather than the usual two, copies of the 21st chromosome. This excess genetic material affects a person's physical and cognitive development. People with Down syndrome will have some degree of Intellectual Disability , usually in the mild to moderate range. There are many characteristics associated with Down syndrome, including low muscle tone, an enlarged tongue, a flat facial profile, and increased risk of related medical conditions. However, every person with Down syndrome is a unique individual and may posses these characteristics to different degrees or not at all. In addition, all of these characteristics are found in the general population.

How often does Down syndrome occur and what is the incidence of the condition?

Down syndrome is the most commonly occurring genetic condition. One in every 800-1,000 live births is a child with Down syndrome, representing approximately 5,000 births per year in the United States alone. Today, Down syndrome affects more than 350,000 people in the United States. Eighty percent of children born with Down syndrome are born to women younger than 35 years old. However, as a woman ages, her chance of conceiving a child with Down syndrome becomes greater.

The incidence of Down syndrome has been variously reported as 1 in 800 live births to 1 in 1,100 live births. A recent puts the incidence at about 1 in 1,000. There is no association between Down syndrome and any given culture, ethnic group, socioeconomic status or geographic region.

What causes Down syndrome?

We don't know what causes the extra 21st chromosome. We know that the extra 21st chromosome causes an extra dose of some proteins. Those proteins cause the typical features of Down syndrome. We don't know most of the proteins involved and how they cause Down syndrome. We do know there is an association between a mother's age and the chances of having a baby with Down syndrome. No causes have been identified and proven. However, it is stated that 95% of all cases is caused by an error in cell division called non-dysjunction. Few cases are caused by two other chromosomal abnormalities: mosaicism and translocation. The additional genetic material alters the course of development and causes the characteristics associated with Down syndrome.

How is Down syndrome diagnosed?

The diagnosis of Down syndrome is usually picked up soon after the birth of the baby because of the way it looks. There are many physical characteristics associated with the condition, which may lead a parent, or medical professional to suspect that the baby has Down syndrome. Many of these features are found in the general population. Therefore a chromosome test would need to be done on the baby before a positive diagnosis could be made. Taking blood from the baby and then analyzing the chromosomes does this. The result is called a karyotype.

What is a karyotype?

A karyotype is simply a picture of a person's chromosomes. In order to get this picture of the chromosomes, a sample is taken, the chromosome are isolated, stained, and photographed, typically during cell division when the chromosomes are highly visible. A geneticist cut up and arranges the chromosomes from the picture, matching up the pairs and organizing them in rows so that they can be clearly visualized. Depending on the type of staining and imaging used, varying levels of detail are visible. A karyotype can be made from the cell of an adult, a child, or from cells taken from a fetus for the purpose of diagnostic testing.

Below is a picture of a karyotype of a male with Down syndrome. You can note the presence of an extra chromosome 21.

Are there varying levels of Down syndrome?

Down syndrome affects each child differently just like each typical child develops differently . Each child has their strengths and weaknesses in different areas.

Is the initial diagnosis of Down syndrome ever wrong?

It is extremely rare for a chromosome test to subsequently show normal
chromosomes after an initial diagnosis has been made.

What are the types of Down syndrome?

About 95% of people with Down syndrome have Trisomy 21, ie. 3 instead of 2 number 21 chromosomes. We normally have 23 pairs of chromosomes, each made up of genes. During the formation of the egg (or the sperm) a woman's (or a man's) pair of chromosomes normally split so that only one chromosome is in each egg (or sperm). In Trisomy 21, or nondisjunction, the twenty-first chromosome pair does not split and a double-dose goes to the egg (or sperm). It is estimated that 95-97% of the extra chromosome is of maternal origin.

The second type of Down syndrome is known as translocation. It occurs in about 3-4% of people with Down syndrome. In this type, an extra part of the twenty-first chromosome gets stuck onto another chromosome. In about half of these situations, one parent carries the extra twenty-first chromosome material in a "balanced", or hidden, form.

The third type of Down syndrome is called mosaicism. In mosaicism, the person with Down syndrome has an extra twenty-first chromosome in only some of the cells but not all of them. The other cells have the usual pair of twenty-first chromosomes. One to 2 percent of people with Down syndrome have this type. (Cooley & Graham, 1991)

Is there are cure for Down syndrome?

Currently, there is no cure for Down syndrome. However, researchers are exploring a number of ways to address and correct many aspects of the syndrome. Researchers have used mouse models to test treatments for preventing the intellectual and developmental disabilities associated with Down syndrome. One study found that mice with Down syndrome who were treated in the womb with specific chemicals had no delay in achieving several developmental milestones. Another study found that specific chemicals prevented learning deficits in adult mice who had Down syndrome.

Is Down syndrome inherited?

Most of the time, Down syndrome isn't inherited. It's caused when Chromosome 21 does not separate normally in cell division during the development of the egg, sperm or embryo.

Translocation Down syndrome is the only form of the disorder that can be passed from parent to child. However, only about 4 percent of children with Down syndrome have translocation. And only about half of these children inherited it from one of their parents.

When translocations are inherited, the mother or father is a balanced carrier of the translocation, which means he or she has some rearranged genetic material, but no extra genetic material. A balanced carrier has no signs or symptoms of Down syndrome, but he or she can pass the translocation on to children.

What are a couple's chances of having a child with Down syndrome?

In the usual circumstance, the chances depend upon the age of the mother. The odds of having a child with Down syndrome at age 35 are approximately 1 in 350. Under age 25, the odds are about 1 in 1400 and at age 40 the odds are about 1 in 100.

The chances of a parent of a child with Trisomy 21 having another child with Down syndrome are approximately 1 in 100. If the child has a translocation, the recurrence risk can be as high as 100% or as low as 2%. Parents of children with translocation type of Down syndrome should have chromosome analysis to detect a carrier state.

What is the risk of parents of a child with Down syndrome to have another child with Down syndrome?

In general, for women under 40 (after having one child with Down syndrome), the chance of having another baby with Down syndrome is 1 percent. The chance for Down syndrome is also known to increase with the mother's age and, after age 40, a mother would simply have the risk based on her age at delivery.

It is important to know that about 80 percent of babies with Down syndrome are born to women under 35. This is due to the fact that women under 35 have more babies than women over 35. Your physician may refer you to a geneticist or genetic counselor who can explain the results of chromosomal tests in detail, including what the recurrence risks may be in another pregnancy and what tests are available to diagnose chromosome problems before a baby is born.

When is prenatal diagnosis recommended?

Until recently, the answer was to offer amniocentesis to all pregnant women age 35 or older and to those women who had a previous child with Down syndrome. Now some doctors reccommend screening tests for all pregnancies.

What tests are used for prenatal diagnosis?

Tests are of two types- diagnostic and screening. Diagnostic tests sample fetal cells and give a definitive diagnosis. Screening tests are relatively simple tests that find most of the fetuses with Down syndrome, but they also find some without. Screening tests need to be confirmed by a diagnostic test.

Diagnostic tests are amniocentesis and chorionic villus sampling (CVS). With amniocentesis a needle is passed through the mother's belly into the womb to sample fetal cells in the amniotic fluid. These cells are then sent for chromosome analysis. Ultrasound is used to safely pass the needle. The test is usually done between 14 and 18 weeks of pregnancy. Although fairly safe there is a small risk of miscarriage. CVS samples cells from the chorionic villi, a structure in the womb that has fetal cells but is not the fetus. It is done between 9 and 12 weeks. It also has similar risks.

Screening tests include maternal alpha-fetoprotein and, more recently, the triple test. Ultrasound is not usually used as a screening test but has been investigated. It is done in conjunction with amniocentesis and chorionic villus sampling. The maternal alpha-fetoprotein test was initially devised to screen for neural tube defects, such as spina bifida. A low level of alpha-fetoprotein is correlated with Down syndrome and some other chromosome disorders. The test is estimated to detect approximately 35% of fetuses with Down syndrome after confirmation by amniocentesis.

The triple test measures a mother's blood levels of human chorionic gonadotropin (hCG), maternal serum alpha-fetoprotein (MSAFP) and unconjugated estriol. The three results are adjusted by a computer program to give an estimate of the risk of having a fetus with Down syndrome. Studies so far suggest a detection rate of 55-60% after confirmation by amniocentesis.(Haddow, Palomaki, Knight, Williams, Pulkkinen, Canick, et al., 1992) Because the accuracy of all of the serum tests depends on accurately knowing the number of weeks of pregnancy, a positive test should have an ultrasound done to confirm the due date of the pregnancy. If the adjusted test results are still positive, then either amniocentesis or chorionic villus sampling should be done.

Besides the medical issues involved, there are obvious ethical issues involved. The results of the testing are most likely used for one of two purposes. The couple may use the information to decide whether or not to have an abortion or the information may be used to prepare for the delivery. Although groups recommending routine use of the blood tests also recommend counseling, they do not specifically address the type of counseling. Counseling should expose the couple to all information and, should include contact either with families who have a child with Down syndrome and/or with people with Down syndrome.

Is there a vaccine to prevent or cure Down syndrome?

No, there is not a vaccine to prevent or cure Down syndrome. However, medical advances have lessened the impact of medical conditions, while early intervention, therapy, education, and support from family and friends, assist the person in leading a productive life. Although there is no way to prevent Down syndrome, there is less than a 1% chance (depending on the age of the mother) that parents who have a child (or other relative) with Down syndrome will have another baby with the same genetic abnormality. When there is an increased risk because of a mother's age (35 years or older) or a history of genetic defects in a family, parents may want to use screening and diagnostic tests.

What is the life expectancy of a person with Down syndrome?

Once the life expectancy of a person with Down syndrome was under 25. Due to an increased understanding of Down syndrome and advances in medical care the current life expectancy for a child born with Down syndrome is 60.

What type of problems do children with Down syndrome typically have?

About 40 percent to 50 percent of babies with Down syndrome have heart defects. Some defects are minor and may be treated with medications, while others may require surgery. All babies with Down syndrome should be examined by a pediatric cardiologist, a physician who specializes in heart diseases of children, and have an echocardiogram (a procedure that evaluates the structure and function of the heart by using sound waves recorded on an electronic sensor that produce a moving picture of the heart and heart valves) in the first two months of life, so that any heart defects can be treated.

About 10 percent of babies with Down syndrome are born with intestinal malformations that require surgery.

Children with Down syndrome are at increased risk for visual or hearing impairment. Common visual problems include crossed eyes, near- or farsightedness, and cataracts. Most visual problems can be improved with glasses, surgery, or other treatments. A pediatric ophthalmologist (a physician who specializes in comprehensive eye care and provides examinations, diagnosis, and treatment for a variety of eye disorders) should be consulted within the first year of life.

Children with Down syndrome may have hearing loss due to fluid in the middle ear, a nerve defect, or both. All children with Down syndrome should have regular vision and hearing examinations so any problems can be treated before they hinder development of language and other skills.

Children with Down syndrome are at increased risk of thyroid problems and leukemia. They also tend to have many colds, as well as bronchitis and pneumonia. Children with Down syndrome should receive regular medical care including childhood immunizations. The National Down syndrome Congress publishes a "Preventative Medicine Checklist" which outlines which checkups and medical tests are recommended at various ages.

My baby doesn’t have many of the physical characteristics of Down’s syndrome, does this mean that the learning disability will be less?

There is no connection between the absence or presence of certain physical
characteristics and the level of a person’s learning disability.

What are the characteristic of people born with Down Syndrome?

Although not all Down syndrome infants share the same distinguishing physical
characteristics, some may have traits to a larger or lesser degree. A preliminary diagnosis can
usually be made at birth just by looking at the baby. If the attending physician suspects Down syndrome,
a karyotype - a blood or tissue sample stained to show chromosomes grouped by size, number, and
shape - will be performed to verify the diagnosis.
The most familiar physical traits of Down syndrome include:
 Low muscle tone (muscle hypotonia).
 Flat facial profile, including a somewhat depressed nasal bridge
and small nose.
 Upward slant to the eyes (oblique palpebral fissures).
 Abnormal shape and small size of the ears (dysplastic ears).
 Single deep crease across the center of the palm (simian crease).
 Excessive ability to extend the joints (joint hypermobility).
 Fifth finger has one bending joint instead of two (dysplastic
middle phalanx).
 Small skin folds on the inner corners of the eyes (epicanthic
folds).
 Excessive space between large and second toe (sandal gap).
 Enlargement of tongue in relationship to size of mouth.
Children with Down syndrome can exhibit these traits in varying degrees. In addition to the characteristics
above, half of the children born with Down syndrome have congenital heart defects. The majority of
these defects can be corrected, resulting in long-term health improvements.
Children with Down syndrome also tend to have increased susceptibility to infection, respiratory
problems, eye problems, thyroid dysfunctions, obstructed digestive tracts (early in infancy), and childhood
leukemia. Recent medical advances have made most of these health problems treatable, however,
and people born with Down syndrome now have an average life expectancy of 55 years.
While children with Down syndrome continue to acquire physical and mental skills throughout their lives,
their ability levels vary considerably. In general, their average rate of progress will be slower than ordinary
children. Because speech may also be delayed, careful attention should be paid to a child's hearing.
Retention of fluid in the inner ear is a common cause of hearing and speech problems.

How serious is mental retardation that accompanies Down syndrome?

The degree of mental retardation that accompanies Down syndrome varies widely, ranging from mild to moderate to severe. However, most mental retardation falls within the mild to moderate range. There is no way to predict the mental development of a child with Down syndrome based on physical features.

What research is being conducted on Down syndrome?

Investigations are on as to why errors in chromosome division occur, in the hope of someday preventing Down syndrome and other birth defects caused by abnormalities in the number or structure of chromosomes. Other researchers are seeking to improve the outlook for children with Down syndrome. One example of this includes developing improved language intervention programs to help these children communicate more easily.

Can people with Down syndrome have children?

There are only a handful of documented cases of a male with Down syndrome fathering a child. eople with Down syndrome have the right to have personal and sexual relationships, and to get married. The DSA knows of a number of happily married couples where one or both partners have Down syndrome. It is important that young people with Down syndrome receive education in the area of relationships and sexuality. As in other areas of learning, they may need more support with this than some of their peers.

People with Down syndrome need careful and sensitive advice about having children, as there are a number of issues to consider. Some people with learning disabilities can successfully parent their children, given the right support. However, many couples with learning disabilities decide for themselves not to have children because of the responsibility and hard work involved, or for financial reasons.

Where one parent has Down syndrome, there is a 35% to 50% chance that the child would inherit the syndrome. This chance is even higher where both parents have Down syndrome.

There is also a high chance that pregnancy would end in miscarriage. Women with Down syndrome are also more likely than other women to have a premature baby, or to need a caesarian section.

Is it Down syndrome or Down's syndrome?

Many medical conditions and diseases have been named after a person; this type of name is called an eponym. There has been a long-standing debate in the scientific community over whether or not to add the possessive form to the names of eponyms.

You may see both the spelling of Down’s syndrome or Down syndrome. In the United States the spelling Down syndrome is preferred since Dr. Down neither had nor owned the syndrome.

The “s” in syndrome is not capitalized

What kind of language should we avoid when speaking about Down syndrome?

It is preferred to use people first language. For example, you should not use “a Down syndrome child” or a “Down child”, instead use “A child with Down syndrome."

A person does not suffer from, nor are they afflicted with, a victim of, nor diseased with, Down syndrome. They simply have Down syndrome. Down syndrome is only a part of the person, they should not be referred to as “a Down”. People with Down syndrome are all unique individuals and should be acknowledged as a person first and foremost.

It is important to think of the person first, e.g. “John is 29 and he has Down syndrome”.

While “mental retardation” may be clinically accepted, it is not socially acceptable to use the word “retarded” in any context that may be derogatory. It is preferred to use the term “intellectual disability”. “You are a retard,” or “That’s retarded,” is insensitive and suggests that a person with an intellectual disability is not capable.

How does Down syndrome affect learning and development?

It is important to remember that while children and adults with Down syndrome experience developmental delays, they also have many talents and gifts and should be given the opportunity and encouragement to develop them.

Most children with Down syndrome have mild to moderate impairments but it is important to note that they are more like other children than they are different. Early Intervention services should be provided shortly after birth. These services should include physical, speech and developmental therapies. Most children attend their neighborhood schools, some in regular classes and others in special education classes. Some children have more significant needs and require a more specialized program. Some high school graduates with Down syndrome participate in post-secondary education. Many adults with Down syndrome are capable of working in the community, but some require a more structured environment.

What can a child with Down syndrome do?

Children with Down syndrome can usually do most things that any young child can do, such as walking, talking, dressing, and being toilet trained. However, they generally do these things later than other children. The exact age that these developmental milestones will be achieved cannot be predicted. However, early intervention programs, beginning in infancy, can help these children achieve their individual potential.

Are there employment opportunities for adults with Down syndrome?

Yes, businesses are seeking young adults with Down syndrome for a variety of positions. They are being employed in small and medium sized offices by banks, corporations, nursing homes, hotels and restaurants. They work in the music and entertainment industry, in clerical positions, and in the computer industry. People with Down syndrome bring to their jobs enthusiasm, reliability and dedication.

How can parents and providers help teens and young adults with DS transition into adulthood?

In foreign countries, more and more youth and young adults with Down syndrome are achieving some of the same milestones as other young people, such as driving a car and finishing high school. As they start to live more independently, young people with Down syndrome get jobs, move into group homes or individual housing, or pursue further education, often at community colleges. Families may need to be advocates to ensure that their young adult children don’t “fall through the cracks.” Sometimes, young people with Down syndrome in the midst of these transitions start to do worse in school or undergo major mood changes. In these cases, additional school assistance or evaluation for hypothyroidism or depression may be appropriate.

Many adolescents and adults with Down syndrome find success in jobs. When considering whether their child with Down syndrome might be ready to look for work, parents should keep several factors in mind: Success depends on a healthy sense of self-esteem, the ability to complete tasks without help, a willingness to separate emotionally from family, and access to personal recreational activities.

Adolescents often switch from care by a pediatrician to adult care, and this change can be difficult for young people with Down syndrome. Families and young people with Down syndrome often have strong bonds of trust with their pediatricians, and adult health care providers may be poorly prepared to meet the needs of maturing patients with Down syndrome. Individuals who receive care at special Down syndrome clinics that provide lifelong care might prefer to stay with the providers at these clinics as adults.

Teenagers with Down syndrome undergo hormonal changes like any other teen. Parents should encourage their teenagers with Down syndrome to develop independent skills in hygiene and self-care, to be aware of privacy issues, and to manage their behavior appropriately. Teenagers with Down syndrome also should be educated about puberty, sexuality, sexual activity, and the consequences of such activity. Males with Down syndrome generally have a reduced sperm count and are usually unable to father children. In contrast, females with Down syndrome have regular menstrual periods and can get pregnant and carry a baby to term. Therefore, health care providers and families should consider having discussions with their teens with Down syndrome about birth control and preventing sexually transmitted diseases (STDs).

Should all children with Down syndrome be placed in special education classrooms?

Children with Down syndrome can and have been included into a regular classroom.

They can be integrated into specific courses, while in other situations students are fully included in the regular classroom for all subjects. The current demand has been for full inclusion in the social and educational life of the community. Increasingly, individuals with Down syndrome graduate from high school with regular diplomas, participate in post-secondary academic and college experiences and, in some cases, receive college degrees.

Can people with Down syndrome form close personal relationships?

Like all people, people with Down syndrome can socialize, have close meaningful friendships, date, and marry.

Can be people with Down syndrome be a productive member of society?

People with Down syndrome attend schools, live independently, make decisions that affect them, work, volunteer and contribute to society in many ways.

Why is it important to get involved in a Down syndrome support group?

Becoming involved in a support group allows you the opportunity to fellowship get resources and get questions answered by people that are in similar situations. There is nothing better than being surrounded by people that understand what you are going through. We encourage everyone to attend a support group.

Some children with DS, who used to be able to walk, are unable to do so anymore. What could be the reason?

Children with DS have low muscle tone which also translates into poor balance. If they are physically less active, they have a higher propensity to put on weight. This sluggishness providesless feedback information to the brain. As a result, the brain function impacts the connections required for walking. Any activity that is hard, we engage in to a lesser degree, thus impacting our performance at it. This results in an endless loop of inactivity. If we instead push ourselves to learn and pursue the activity that appears hard to us, we will be able to simultaneously push the brain to engage in the same activity, pursued effortlessly over time.

My teenage daughter who has Down syndrome was friendly and sociable earlier. But lately she does not want to engage in play with other children in the family. What could be the reason, and what do I do to help her overcome isolation?

There may be many reasons for her loss of social connection with her age mates.
• She may not be able to understand what others are saying
• She may be temperamental, as teenage blues maybe setting in
Talk to the other kids and family members about the situation. Do not pinpoint blame on any child for lack of connection. Instead, encourage the children to engage in play with your daughter by give themspecific responsibilities. For eg. Make one child the play datecoordinator, while making another child the secretary of selecting games, and so on. By giving each child a specific responsibility, you can engage them to form a group. This may encourage them to include your daughter at play.

Can diet control help cure certain developmental challenges in a child with Down syndrome?

The presence of an extra chromosome in children with DS results in greater oxidative stress. This causes faster ageing. Though diet cannot prevent the complexities (or prevent premature ageing) that may emerge, consuming foods rich in folic acid and zinc were found to helpreduce recurrent infections (the frequency of which maybe a co-morbid condition)in the child’s body. Thus, in this case, nutrition can have an impact on the general immunity of the child, not cure the developmental complexities per se.

Can a child with Down syndrome also develop ASD?

Yes, it is entirely possible. Both conditions can occur in the same child.