About Down Syndrome
Down syndrome is a chromosomal condition (genetic) that occurs when an error in cell division results in an extra copy of chromosome 21. This extra chromosome can affect a person’s physical features, intellect, and overall development. It is a naturally occurring chromosomal arrangement, universally present across racial, gender and socioeconomic lines.
Down syndrome is not an illness. The terms describes the features resulting from this change.
According to the World Health Organisation, Down syndrome occurs in around 1 in 700 live births worldwide. It is determined by many factors, research suggests that there is a higher chance if the mother is older than 35 years of age. Before the age of 30, Down syndrome occurs in less than 1 in 1,000 pregnancies. After the age of 40, this figure rises to about 12 in 1,000*
*Medically reviewed by University of Illinois on December 6, 2017 by Peter Crosta.
It is believed that people with Down syndrome have always existed. However, it was not until 1866 that John Langdon Down, an English doctor, published an accurate description of the condition, which subsequently took his name.
In 1959, Professor Jérôme Lejune identified Down syndrome as a chromosomal condition. Instead of the usual 46 chromosomes present in each cell, he observed that there were 47 chromosomes in the cells of individuals with Down syndrome. It was later determined that this additional chromosomal material results in the varying degrees of intellectual disability and physical characteristics associated with the condition.
Types of Down syndrome
Trisomy 21 (Nondisjunction)
Down syndrome is usually caused by an error in cell division called “nondisjunction”. Nondisjunction results in a cell with three copies of chromosome 21 instead of the usual two. Trisomy 21 is the most common form of Down syndrome and it accounts for 95% of cases.
Mosaicism (or mosaic Down syndrome) is diagnosed when there is a mixture of two types of cells, some with the usual 46 chromosomes and some with 47 chromosomes. Those cells with 47 chromosomes contain an extra chromosome 21. Individuals who has this condition may have fewer characteristics of Down syndrome. It is the least common form of Down syndrome and it accounts for 1% of cases.
Translocation Down syndrome is caused when one chromosome breaks off and attaches to another chromosome. In this case, there are three chromosome 21 but one of the chromosome 21 is attached to another chromosome (chromosome 14). This type of Down syndrome accounts for 4% of cases.
Persons with Down syndrome have unique health conditions that can affect their physical growth, cognitive ability and cause mild to moderate developmental issues. Other higher risks health conditions include Alzheimer’s disease, epilepsy and respiratory problems.
Some physical characteristics of Down syndrome include:
- eyes that slant upward, have oblique fissures, have epicanthic skin folds on the inner corner, and have white spots on the iris
- low muscle tone
- small stature and a short neck
- a flat nasal bridge
- single, deep creases across the center of the palms
- a protrudig tongue
- a large space between large and second toe
- a single flexion furrow of the fifth finger
As each person with Down syndrome is a unique individual, the characteristics may differ.
People who have Down syndrome usually have cognitive development profiles that suggest mild to moderate intellectual disability. However, cognitive development and intellectual ability are highly variable.
Children with Down syndrome often reach developmental milestones a little later than their peers. For example, there may be a delay in learning to talk. A child may need speech therapy to help them gain expressive language. Fine motor skills may also be delayed. They can take time to develop after the child acquires gross motor skills.
On average, a child with Down syndrome will:
- sit at 11 months
- crawl at 17 months
- walk at 26 months
There may also be problems with attention, a tendency to make poor judgments, and impulsive behavior. However, most people with Down syndrome can attend school and become active, valued members of the community.
There are two types of tests for Down syndrome that can be performed before a baby is born: a screening test and a diagnostic test. A screening test can show an increased probability if a fetus has Down syndrome, but it cannot determine that Down syndrome is definitely present. If a screening test shows an increased probability, a diagnostic test can be ordered. A prenatal diagnostic test can determine with almost 100% accuracy that Down syndrome is present. However, diagnostic tests carry a slightly greater risk to the fetus than screening tests.
Most screening tests involve:
- Blood tests that measure protein and hormone levels in pregnant women. Abnormal levels, whether high or low, can indicate a genetic condition.
- Ultrasound can identify congenital heart conditions and other structural changes that may indicate Down syndrome.
Diagnostic tests options include:
- Chorionic villus sampling (CVS), a prenatal diagnostic method in which a small biopsy of the placenta is taken for specific genetic testing. CVS is used to detect any condition that involves specific chromosomal abnormalities, such as Down syndrome. This test is usually done during the first trimester, between 10-14 weeks of gestation.
- Amniocentesis, a prenatal diagnostic method in which a needle is inserted into the amniotic sac that surrounds the fetus. Amniocentesis is most often used to detect Down syndrome and other chromosomal abnormalities. This test is usually done during the second trimester, after 15 weeks of gestation.
The initial diagnosis of Down syndrome is usually based on the presence of certain physical traits: low muscle tone, a slightly flattened facial profile, an upward slant to the eyes and a single deep crease across the palm. As these features may be present in babies without Down syndrome, a chromosomal analysis called a karyotype is done to confirm the diagnosis. A blood sample is drawn to examine the baby’s cells.
There is no specific treatment for Down syndrome. People who have the condition will receive care for any health problems, as other people do. However, healthcare professionals may recommend additional health screening for issues common to the condition.
Early intervention such as Infant Toddler Program can help a person maximise their potential and prepare them to take up an active role in the community
Children with specific learning and development difficulties may be eligible for educational support, either in a mainstream or specialized school. In recent years, the tendency has been to attend mainstream schools, often with additional support such as Integration Facilitation Support Program to help them integrate and progress
Adults with specific learning and development difficulties may be eligible for Adult Enhancement Program (AEP) and Independent Living and Training Centre to enhance their well-being, independence and employability.
A person with Down syndrome can do many of the things that other people do. Children may take longer to acquire skills such as walking and talking, but with stimulation, they can acquire key life skills and attend school. Depending on how the condition affects a person, it is often possible for someone to work and to live semi-independently with Down syndrome.
The average life expectancy of a person with Down syndrome is around 60 years, but many people with Down syndrome now live into their 70s.
Preferred Language Guide
Appropriate terminology is critical in shaping ideas, perceptions and attitudes. Inappropriate usage may reinforce existing prejudices. When used accurately it helps to liberate people from stereotypes, prejudices and misconceptions.
Use this language when referring to Down syndrome and people who have Down syndrome:
- A person with Down syndrome should always be referred to as a person first
- Instead of “a Down syndrome child” or “a Down’s kid”, it should be “a child with Down syndrome”
- Down syndrome is a condition or a syndrome, not a disease
- Do not refer to them as victims or sufferers
- Do depict persons with disabilities in age appropriate situations. Do not portray adults with Down syndrome (or an intellectual disability) as children nor as kids
- “Typically developing” or “typical” is preferred over “normal”. For example “compared to typical children, persons with Down syndrome…”
Congratulations on the birth of your baby!
If your baby is healthy, you do not have to do anything different or special at this stage. Each individual is different, take time to get to know him/her and enjoy the company. A loving and secure environment is the most important thing you can give to your baby at this time.
Your baby’s health
Babies and children who have Down syndrome have the same needs as any child. However, there are some health conditions that are more common in children with Down syndrome. It is important for you to be aware of this, you may check with your gynaecologist for more details.
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Children with Down syndrome develop at different rates and in different ways. As they get older, they will continue to progress in all areas. Early intervention can help the development of children with Down syndrome. This can include physical, speech, and occupational therapy.
At DSA, we have a team of early intervention teachers who provide support to families and their children aged 0 to 48 months.
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We understand the amount of information may get overwhelming. At DSA, we can connect you with other like-minded parents who are able to give you some advice and much-needed moral support.
DSA Medical Passport
DSA Medical Passport was initiated with the help of our advisor, Dr. Bhavani for all of our members to organise the medical records of their children with special needs. This will improve the accessibility of doctors and healthcare staff to the health status and needs of the child during consultation.
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At DSA, we believe that cost should not be a barrier between your child and our Programs. DSA Financial Assistance extends financial aid to needy families who would like to enroll their child with special needs into our Programs and services.
If you need help or know of families who requires such assistance, please drop us an email.