One in every 700 babies born in the United States each year is diagnosed with Down syndrome—about 6,000 babies.
Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material alters the course of development and causes the characteristics associated with Down syndrome.
People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer’s disease, childhood leukemia, and thyroid conditions.
Many of these conditions are now treatable, so most people with Down syndrome live healthy lives well into adulthood. With early intervention therapies, educational support, and good medical care, many people with Down syndrome can develop skills and abilities that allow them to lead fulfilling lives.
What is Down Syndrome?
Down syndrome is a condition caused by a chromosomal abnormality. People with Down syndrome have an extra chromosome that affects their development and causes intellectual disabilities.
There are three types of Down syndrome, which are determined by the number of chromosomes a person has:
Trisomy 21: This is the most common type, accounting for 95% of all Down syndrome cases. People with trisomy 21 have three copies of chromosome 21 instead of two.
Tetraploidy: This is a rare form of Down syndrome that occurs when a person has four copies of chromosome 21 instead of two. Tetraploidy is considered to be more severe than trisomy 21 and can cause serious health problems.
Mosaic: This is the least common type of Down syndrome, occurring in about 1% of cases. People with mosaic Down syndrome have a mixture of cells, some with three copies of chromosome 21 and some with the normal two copies.
Down syndrome can cause a wide range of symptoms, including mental retardation, developmental delays, physical abnormalities, and health problems. The severity of these symptoms varies from person to person.
Causes of Down Syndrome
There are three types of Down syndrome. The most common type, trisomy 21, occurs when each cell in the body has three copies of chromosome 21 instead of the usual two copies. This form of Down syndrome is caused by a random event during the formation of reproductive cells in a parent. Most cases of Down syndrome are not inherited.
Translocation Down syndrome occurs when part of chromosome 21 becomes attached, or translocated, to another chromosome before or at conception. If the father has the rearranged chromosome, he can pass it on to his children. In this case, the mothers usually do not have symptoms of Down syndrome.
The third type of Down syndrome, mosaicism, occurs when some cells have the usual two copies of chromosome 21 and other cells have three copies. This type is caused by an error that happens during cell division after conception.
Most people with Down syndrome have mild to moderate intellectual disabilities. Some people with mosaic Down syndrome have IQ scores in the normal range, while others have only mild intellectual disabilities. People with translocation Down syndrome often have higher IQ scores than those with trisomy 21.
Read also: Help Your Child Overcome the Challenges of Down Syndrome
Diagnosis of Down Syndrome
Most babies with Down syndrome are born to women who are 35 years or older. If you’re in this age group and you’re pregnant, you may be offered tests to screen for the condition.
Diagnosis of Down syndrome can be made before birth (prenatal diagnosis), after birth (postnatal diagnosis), or before symptoms appear (pre-symptomatic diagnosis).
Prenatal diagnosis is usually done during the second trimester of pregnancy, through a procedure called amniocentesis or by looking at the baby’s chromosomes after a sample of the placenta is taken (chorionic villus sampling). These procedures carry a small risk of miscarriage.
Postnatal diagnosis is done using a blood test to look at the baby’s chromosomes. This test can be done as early as 24 hours after birth.
Pre-symptomatic diagnosis is done before any signs or symptoms of Down syndrome appear. It’s usually only done if there’s a family history of the condition. A blood test can be used to look at the chromosomes, but this isn’t routinely done in all people with a family history of Down syndrome.
Prognosis of Down Syndrome
Down syndrome is a lifelong condition. There is no cure, but most people with Down syndrome live happy, healthy, and fulfilling lives.
Most babies with Down syndrome are born healthy and reach many of the same milestones as other babies, but they may do so at a slower pace. They may also have some health problems that need to be monitored and treated.
With the right support and guidance, people with Down syndrome can achieve their goals and lead happy productive lives.
How to Care for Someone with Down Syndrome
It is important to know how to care for someone with Down syndrome because they are more prone to certain health problems. They also have different physical and mental needs than people without Down syndrome. Here are some tips on how to care for someone with Down syndrome.
1. Be Supportive
Individuals with Down syndrome often have some level of cognitive impairment, which can make it difficult to communicate and interact with others. It’s important to be patient, use short sentences and simple words, and provide extra time for the person to process what you’re saying.
Be supportive and encouraging, offer praise for even small accomplishments, and help the person feel good about themselves.
Read also: An Extra Chromosome, an Extra Blessing
2. Promote Inclusion
Down syndrome is a condition caused by the presence of an extra chromosome 21. People with Down syndrome often have distinctive facial features and tend to be of short stature. They may also have intellectual disabilities and health problems, such as heart defects.
Most people with Down syndrome live into adulthood and lead happy, fulfilling lives. However, they may need some extra support to reach their full potential.
One of the best things you can do for someone with Down syndrome is to promote inclusion. This means making sure they have the same opportunities as everyone else to participate in activities, make friends, and be involved in the community.
Here are some other things you can do to support someone with Down syndrome:
- Encourage them to be active and stay healthy. This includes getting regular exercise and eating a healthy diet.
- Help them find a job or volunteer opportunities that interest them.
- Support their involvement in social activities, such as clubs or groups.
- Encourage them to speak up for themselves and make their own decisions.
- Make sure they have access to medical care and information about their health conditions.
3. Be Patient
Many people with Down syndrome have a very positive outlook on life and are very happy people. They can live fulfilling lives, whether they live independently or with support.
However, it is important to remember that each person with Down syndrome is an individual and will have different abilities, needs, and interests. Some people with Down syndrome will need more support than others.
It is also important to remember that people with Down syndrome grow and develop at different rates. They may reach some milestones later than other children their age, but they will still reach them eventually.
Caring for someone with Down syndrome can be very rewarding, but it can also be challenging at times. Here are some things to keep in mind:
Be patient:
People with Down syndrome often take longer to do things than other people. For example, they may take longer to learn to talk or potty train. It is important to be patient and not get frustrated.
Encourage independence:
Help the person with Down syndrome do as much as possible for themselves. This will help them feel good about themselves and give them a sense of accomplishment.
Communicate clearly:
People with Down syndrome often have trouble understanding abstract concepts. So when you’re communicating with them, be sure to use simple words and short sentences. It may also help to use pictures or other visual aids.
4. Seek Out Resources
When you first receive a diagnosis of Down syndrome for your child, it can be overwhelming. There are so many unknowns and you may feel like you are all alone on this journey. But there are resources available to help you. Here are some places to start:
The National Down Syndrome Society (NDSS) is a great resource for information and support. They also have an Advocacy Network that can connect you with other families in your area who have a child with Down syndrome.
The Down Syndrome Education International (DSEI) provides educational resources and support for families, educators, and medical professionals.
Your local public school system should have an Individualized Education Program (IEP) in place for your child. This is a document that outlines the specific educational services and accommodations that will be provided to your child to ensure their success in school.
There are also many wonderful organizations that provide respite care, support groups, and recreational activities specifically for people with Down syndrome and their families. Contact your local NDSS or DSEI office for more information on these types of organizations in your area.
Conclusion
In conclusion, there are a few important things to remember when caring for someone with Down syndrome. First, they will need extra help with activities of daily living, so be patient and be prepared to offer assistance. Second, they are likely to experience some health problems, so it’s important to be aware of these and to seek medical help if necessary. Third, people with Down syndrome are just like everyone else – they have their own unique personalities and needs, so treat them with respect and understanding.
