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.^[1]

There are three types of Down Syndrome:

• Trisomy 21: All cells have 3 copies instead of 2 copies of chromosome 21. Approximately 95% of Down Syndrome cases are due to Trisomy 21. The chance for Trisomy 21 increases with the mother’s age.

• Translocation: It is a rare condition in which a part of chromosome 21 shreds and gets attached (translocated) to another chromosome, thereby providing extra genetic material to the new cell. This happens in approximately 4-5% of the cases.This is the only type which can be inherited.

• Mosaic: Some cells have an extra copy of chromosome 21.  This is extremely rare.

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.^[2]

• Moon-like face
• Upward slanting eyes
• Small ears
• Flattened nose
• Small mouth
• Excess skin at the nape of the neck
• Separated joints between the bones of the skull (sutures)
• Decreased muscle tone at birth
• Wide, short hands with short fingers
• Single crease in the palm of the hand
• White spots on the coloured part of the eye (Brushfield spots)
• Rarely cry
• Slower than usual physical development
• Less than usual adult height
• Placid and passive behaviour

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 20^th 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.

• Blood test: PAPP-A (Pregnancy associated plasma protein-A) and HCG (Human chorionic gonadotrophin): This test helps to indicate birth defects in the first trimester itself.
• Ultrasound: It is also known as Nuchal translucency screening test. A specific area of the back of the baby’s neck is checked for collection of abnormal amounts of fluid.

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:

• Amniocentesis
• Chorionic Villus sampling(CVS)
• Cordocentesis

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

• Paediatricians
• Psychiatrists
• Pathologists

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 12^th to the 20^th week for pregnancy, consultation with at least two registered medical practitioners is required.^[3]

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:

• Swallowing and feeding assessment: Due to the chance of a child with Down Syndrome having a small mouth and a slightly enlarged tongue, they may have trouble swallowing and feeding correctly. It is therefore recommended that they undergo a swallowing and feeding assessment which might include physical examination, study of medical and feeding history of the child as well as specialized studies, such as video fluoroscopy.  Ask your paediatrician for advice.

• Language Assessment: Language assessment for a child with Down Syndrome covers both the physical and cognitive aspects which prevent normal language development and identifies the appropriate interventions. In this, the child’s responses to persons and objects in various environments, as well as the use of gestures and hearing, oral-motor and speech abilities are assessed. Both parents and specialists, including speech therapists, will be involved in the on-going monitoring of the child’s language development.

• Cognitive Screening/Assessment: Evaluation of cognition includes assessment of conceptual development, memory, attention, problem-solving skills, perceptual motor function, functional motor skills, receptive and expressive language, adaptive behaviour, verbal and nonverbal measures, and the child’s ability to use skills and information in varied environments.

• Hearing/Balance Screening/Assessment: Children with Down Syndrome are at increased risk for middle ear infection.  An assessment should be conducted when signs of upper respiratory infection or fever are present. In addition, the child will require on-going monitoring and hearing testing.A comprehensive hearing assessment for infants and young children will include: hearing history, behavioural audiometry, and electrophysiological procedures as appropriate.

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.^[4] 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.

• Walking and other motor developmental milestones: You can help your child strengthen muscles through directed play.^[5] As your child gets older, you can work with a physiotherapist and your doctor to design an exercise program to help your child maintain and increase muscle strength and physical skills.

• Physical activity: This will keep your child feeling healthy and happy, whether or not he or she has weight problems.

• Self-feeding: You can teach your child to eat independently by sitting down together for meals. Using gradual steps is helpful.  You can start by allowing your child to eat with his or her fingers and give them thick liquids to drink.

• Dressing: Teach your child to dress by taking extra time in your explanation and practice.

• Communication: Simple measures, such as maintaining eye contact with your baby while speaking or pointing and naming objects can help your baby learn to talk.

• Social Interaction: Encourage your child to learn, socialize, and be physically active.

• Grooming and hygiene: Help your child learn the importance of being clean and looking their best. Establish a daily routine for bathing and getting ready. As your child gets older, this will become increasingly important. Gradually add new tasks to the routine, such as applying deodorant.

What interventions are made for a child diagnosed with Down Syndrome?

• Medical Specialists: The paediatrician will be the main person overseeing your child’s health issues. Most paediatricians have experience with common medical issues that children with Down Syndrome often have. Auditory problems are evaluated by an audiologist and vision problems by an optometrist or ophthalmologist. The hearing and vision problems encountered in children with Down Syndrome are no different from those in other children.

• Medical Treatment: Your child is at an increased risk to certain medical issues. Problems commonly faced include heart defects, thyroid, muscle, joint, vision and hearing problems. Cardiologists can be contacted in case of heart defects, while thyroid problems can be addressed by paediatric endocrinologists (doctors specialising in hormones). Less frequent problems in Down Syndrome include leukaemia and seizures. Different approaches are used to treat these medical conditions.

• Medication: Medication can be used to treat certain conditions that occur. For example, if your child has a seizure disorder, he/she would benefit from anti-seizure medication. People with thyroid problems can take thyroid replacement hormones. While these medications help with the associated medical condition, they do not have any effect on Down Syndrome itself. So far, there is no known medication that cures Down Syndrome.

• Surgical Treatment: About 40% of children with Down Syndrome have congenital heart defects. Some of these defects are mild and may correct themselves, while some heart defects are more severe and may require surgery. Your child may also have intestinal defects that require surgery. A child who needs surgery is not necessarily a “more severe” case of Down Syndrome.

• Physical Therapy: Most children with Down Syndrome have hypotonia (lower than usual muscle tone). Hence an important goal of physical therapy is to improve muscle tone and motor development. Working on muscles and movements will help the child to reach some of his/her motor milestones. It will prevent them from developing problems such as bad posture, which can accompany low muscle tone.

• Speech Therapy: Since a child with Down Syndrome often has a small mouth and a slightly enlarged tongue, he/she may have trouble speaking clearly. These articulation problems can be worsened by low muscle tone (because face muscles are used during speech) and by hearing (auditory) issues. A speech therapist will work with the child to help him/her learn to communicate clearly. Most children can speak. But for some with Down Syndrome, communication can be done through sign language.

• Occupational Therapy: Since children with Down Syndrome may take some time to reach important developmental milestones, an occupational therapist can help them master skills important for independence, such as self-care skills (feeding, grooming), motor skills, play and leisure skills.

• Other Support: Sometimes, coping with the emotional and practical aspects of Down Syndrome can be overwhelming for caregivers. It can be helpful to meet with a social worker or counsellor to talk about thoughts or concerns. Joining a Down Syndrome support group is also an alternative. In support groups, patients and their family members get together to share what they have learned about Down Syndrome. It is important to remember that in order to provide care to another, you must first take care of yourself.

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:

• As your child enters puberty, teach them proper grooming and hygiene.
• Encourage your child to take part in school and community activities. Teens almost always graduate from high school. Provide opportunities for your child to form healthy friendships. This is critical for your child’s happiness and sense of belonging.
• Be aware of the social difficulties and vulnerabilities your child faces. Start early to prepare your child for healthy adult and intimate relationships.
• Teach them about consent and how to respect their own body as well as the bodies of others.
• Provide sex education in an honest and easy to understand manner. Talk about the reproductive as well as the intimate aspects of sex.
• Talk about birth control and safe-sex practices to prevent sexually transmitted infections.
• Discuss morals and beliefs with your child.

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.^[6]

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.^[7] 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:

[1] http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/

[2] Walker, M. 1993.Dmso: Nature’s Healer. Avery: New York

[3] The Medical Termination Of Pregnancy Act, 1971 (Act No. 34 of 1971)

[4] https://www.clinicalkey.com/topics/pediatrics/Down’s-syndrome.html

[5] Directed play means play that is carefully selected because it helps to exercise certain muscles.

[6] http://www.ndss.org/Down-Syndrome/Down-Syndrome-Facts/

[7] http://www.ndss.org/Resources/Wellness/Sexuality/Sexuality-and-Down-Syndrome/