Down Syndrome is a genetic defect that occurs in chromosome 21. About 1 in 800 children is born with Down Syndrome. It occurs in both sexes, among all races, and socio-economic groups.
Down Syndrome is associated with intellectual and developmental challenges. Typical physical characteristics of persons with Down Syndrome are: small head, slanting eyes and small hands with a single crease across the palm. Persons with Down Syndrome may also have abnormalities that affect their general health.
Although children with Down Syndrome may seem to look alike, each one is an individual with a clearly defined personality.
Every human cell has pairs of chromosomes numbered from 1 – 23. In each pair, one chromosome comes from the father and the other from the mother. However, in babies with Down Syndrome,cells carry extra genetic material from chromosome 21. This affects the way the body and brain develop. Only 1% of cases of Down Syndrome are hereditary i.e., passed on from parents to children through their genes. In most cases, the genetic defect is simply a chance event.
There are three types of Down Syndrome:
Couples who already have a child with Down Syndrome have a slightly increased risk of having another child with the condition. But the risk that it will happen is less than 1%.
Persons with Down Syndrome have common physical traits. Although some newborns do not show these features at birth, they will develop the characteristic features during infancy.
Up until 20 months of age, children with Down Syndrome seem to be only around 6 months behind their peers. There are many similarities in gestures, socialisation, and playing with toys.
However, from about 26 months of age, the gap between a child with Down Syndrome and their typically developing peers often widens. Children with Down Syndrome increase their vocabulary comprehension from stage to stage, but are often unable to keep up with their peers. In terms of spoken words, they may have a lag of up to a year.
The intelligence quotient (IQ) among children with Down Syndrome varies, but averages about 50. Their visual motor skills (such as drawing) are better developed than those that require listening.
Children with Down Syndrome who have severe intellectual challenges are at greater risk of being on the Autism Spectrum.
Persons with Down Syndrome often face general health problems due to other physical defects, in particular congenital heart disease. This requires some children with Down Syndrome to have surgery early in life.
Screening for Down Syndrome is recommended for all women, regardless of age, before the 20th week of pregnancy. It is diagnosed by ultrasound of the growing baby or by pathology tests based on abnormal levels of certain proteins in the mother’s blood in the first 15 – 16 weeks of pregnancy. Other tests can be done after 18 weeks of pregnancy.
If the screening test indicates any abnormality, a pregnant mother can consult her gynaecologist about the following diagnostic test, which can be conducted between 18-22 weeks of pregnancy:
After birth, a child’s physical appearance may suggest that he/she has Down Syndrome. This is confirmed by testing the infant’s blood for Trisomy 21 or other disorders of chromosome 21.
Usually, Down Syndrome can be confirmed with the help of
A diagnosis of Down Syndrome in a foetus (baby in the mother’s womb) or child can be overwhelming. You may find it helpful to hear from other parents – for example, through Parent Support Groups. Reassurance from their experiences can be a helpfulway to adapt to the diagnosis.
If a foetus is diagnosed with Down Syndrome, the pregnancy may be terminated under the Medical Termination of Pregnancy Act 1971. Medical termination of pregnancy can take place only in a hospital established, maintained or accredited by the Government. The pregnancy can be terminated before 12 weeks after consultation from one registered medical practitioner. From the 12th to the 20th week for pregnancy, consultation with at least two registered medical practitioners is required.
If a child is diagnosed with Down Syndrome, it is important to remember that with the right support, they can live full and satisfying lives. Once the diagnosis for Down Syndrome is confirmed, the child should be assessed for a number of conditions that may be linked to Down Syndrome. You can then begin to plan the interventions that will help you and your child manage the condition.
After the diagnosis is made, it is recommended to check for other abnormalities associated with Down Syndrome. A number of assessments may be carried out, which include:
Given the right support, a child with Down Syndrome can learn to lead a fulfilling life and make a valuable contribution to society. As a parent of a child with Down Syndrome, you play an important role in helping your child reach their full potential. There are a number of interventions you can make at home, but you may also need to seek out professional advice and specialist support.
What is the importance of early childhood intervention for a child diagnosed with Down Syndrome?
Early detection and intervention is extremely important. It helps to ensure that children with Down Syndrome function better and are successfully integrated into society. Early diagnosis also means that plans for treatment of congenital malformations, and other medical conditions, along with developmental, educational, and vocational services can be made in time. Early intervention entails a program of therapies, exercises and activities, designed to specifically help your child. These can be carried out at home, as well as through specialist interventions.
You can enrol your young child (infant through age 3 years) in an early-intervention program. These programs have trained staff to monitor and encourage your child’s development.
What kind of care can I provide at home?
The best place for your child to grow is in his/her own home surrounded by his/her family, where he/she can be nurtured with appropriate and non-judgmental stimulation. As a parent of a child with Down Syndrome, you play an important role in helping your child reach their full potential. You and your child will have many accomplishments.
Your child will likely take some time to reach certain milestones, but their achievements are significant and exciting to watch. Be patient, and encourage your young child as they learn.
What interventions are made for a child diagnosed with Down Syndrome?
Should I enrol my child in a special education program?
Your child has a legal right to education. These laws also protect your rights as a parent to be fully informed about or to challenge educational decisions concerning your child.
Whether to send your child to a mainstream or special school is a personal decision, based on your child’s needs and your personal preferences. There are many arguments in favour of each: whilst some people believe that children with Down Syndrome should be educated at special schools for students with intellectual disabilities, research shows that children with Down Syndrome often make the best progress when they are educated in mainstream schools alongside their peers.
Whatever you decide, it is important to be involved with your child’s education. If your child is in a mainstream school, he or she may need an adapted curriculum and may sometimes be required to attend special classes.
You should try and enrol your child in classes with other children of the same age. Think of ways you can stimulate your child’s thinking skills without making tasks too difficult. Remember, it is okay for your child to sometimes fail.
Adolescents with Down Syndrome have the same needs as everyone else. Most will want to date, socialise, and form intimate relationships. You can help your child develop healthy relationships by teaching appropriate social skills and behaviour. Peer acceptance and self-esteem are affected by how well your adolescent child addresses these issues.
Here are some tips:
During your child’s teen years, you could also start to plan for future jobs and living arrangements. Many people who have Down Syndrome live independently as adults or in group homes/apartments with support services. But most group homes and community centres require a basic level of self-sufficiency, such as being able to eat, dress, and bathe independently. Occupational therapists can assist in these transitions.
Vocational training helps many young adults learn how to work in many settings, such as stores, restaurants, and hotels.
Many adults with Down Syndrome function well in society. They often have regular jobs, build strong friendships as well as romantic relationships, and take part in community activities. As parents, you should encourage his/her interests, such as in art, theatre, music or literature.
An adult with Down Syndrome benefits greatly from working outside the home and having social activities. Unfortunately, prejudice against persons with Down Syndrome often bars them from the mainstream workplaces. Employers often make assumptions about what a person with challenges can and cannot do, when in reality they have a wide range of abilities.
Many adults with Down Syndrome live semi-independently in assisted living facilities and group homes. For more information, visit the section on Persons with Challenges.
As people with Down Syndrome grow older, they face a new set of challenges including (psychiatric) conditions such as depression and Alzheimer’s disease. It is important that both caregivers and providers be aware of the increased chance of these conditions, and screen appropriately and regularly for them. The same therapeutic approach is used to manage these conditions in individuals with Down Syndrome as for those without the Syndrome.
There is no cure for Down Syndrome. However, there are many services which can help treat medical problems associated with Down Syndrome. An early diagnosis coupled with training can help your child live a healthy and fulfilling life.
Most people with Down Syndrome have only mild to moderate Intellectual Disability. Individuals with Down Syndrome have IQ scores of 30 to 60, but much variation exists. All individuals with Down Syndrome are capable of cognition and learning.
Most children with Down Syndrome do not need to go to special schools. They do much better in ‘mainstream’ schools, where they can attend regular classes for some subjects and either attend special classes for other subjects or have an aid in the classroom. Each school system is required to provide the best learning environment possible for all special needs children. As a parent, it is up to you to decide what is best for your child depending on his/her needs.
The average life expectancy of a person with Down Syndrome has increased drastically in recent years – from 25 years in 1980 to 60 years today.
Only 1% of all cases of Down Syndrome are hereditary. However, persons with a family history of Down Syndrome are recommended to have genetic counselling before planning a baby.
Couples who already have a child with Down Syndrome have a slightly increased risk of having another child with the condition. But the risk that this will happen,is less than 1%. Tests should be carried out in the first few months of pregnancy to check for Down Syndrome.
There is no way to prevent Down Syndrome. But 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 problem.
Screening and diagnostic tests are recommended for all pregnancies regardless of mother’s age or family history. When the mother’s age nears 35 years or older, or there is a history of genetic defects in a family, it becomes essential to perform these tests.
No, people with Down Syndrome do not have a particular personality type. They experience the full range of emotions such as sadness, anger and happiness, just like everyone else.
However, people with Down Syndrome often use similar coping strategies. These strategies usually revolve around the idea of routines, order and sameness as a means of rationalising and controlling their lives. Similarly, people with Down Syndrome may also use self-talk as a way of directing their behaviour, expressing their feelings and making sense of what is sometimes a very confusing world.
It is important to understand that change can be very disorientating to these young people, especially if associated with learning disability.
People with Down Syndrome have sometimes been portrayed as being stubborn. Stubbornness and a refusal to cooperate may be a signal from any individual that they do not fully understand what is expected of them. Stubbornness can also be symptomatic of an individual trying to exert control over their lives. The best way to help someone is to try and find out from them about the problem they are facing.
People with Down Syndrome have every right to personal and sexual relationships, and to get married. It is important that all young people, including those with Down Syndrome, receive education in the area of relationships and sexuality. As in other areas of learning, individuals with learning disabilities may need more support. Both women and men with Down Syndrome can be fertile, although they have a reduced fertility rate. Therefore they need advice on, and access to contraception.
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 challenges decide to not have children because of the responsibility involved, or for financial reasons.
Approximately 35-50% of children born to mothers with Down Syndrome are likely to have Trisomy 21 or other developmental disabilities. There is also a high chance that the pregnancy could end in miscarriage. Women with Down Syndrome are also more likely than other women to have a premature baby, or to need a caesarean section.
We believe that with social enlightenment and efforts of non-government and government organisations, serviceswill continue to improve for people with Down Syndrome. Many services are in place; however, these are not enough for the volume and need of persons with Down Syndrome.
Every person has the right to partake fully in the social life of the community that he/ she inhabits. We hope that Indian society will become fully inclusive, embracing diversity rather than condemning many people with Down Syndrome and their families to a life of social exclusion.
The International Human Genome Project has been successful in sequencing chromosome 21. As research continues, it is hoped that the future will bring greater understanding of the developmental causes as well as of the medical problems associated with Down Syndrome.
In 1866, an English doctor, John Langdon Down published a description of the condition, which subsequently took his name.
In 1959, Professor JéromeLejeune proved that Down Syndrome is a chromosomal irregularity. Instead of the 46 chromosomes usually present in each cell, Lejeune noted that cells of people with Down Syndrome had 47 chromosomes. It was later determined that this additional chromosomal material results in the physical characteristics and the different course of development associated with the condition.
We would like to extend our sincere gratitude to Ms. Kiran Gupta and Ms. Viveka Chattopadhyay who reviewed this content and whose suggestions and guidance proved immensely valuable.
The following references were used to compile the above information: http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/  Walker, M. 1993.Dmso: Nature’s Healer. Avery: New York  The Medical Termination Of Pregnancy Act, 1971 (Act No. 34 of 1971)  https://www.clinicalkey.com/topics/pediatrics/Down’s-syndrome.html  Directed play means play that is carefully selected because it helps to exercise certain muscles.  http://www.ndss.org/Down-Syndrome/Down-Syndrome-Facts/  http://www.ndss.org/Resources/Wellness/Sexuality/Sexuality-and-Down-Syndrome/