Down Syndrome: Causes, Symptoms and Treatment

1. Introduction

Down syndrome is a congenital disorder caused by an error in cell division that results in the presence of an extra 21st chromosome. It is the most common form of intellectual disability, affecting around 1 in every 1000 live births globally. The severity of symptoms varies from individual to individual, but all people with Down syndrome experience some degree of learning difficulties and developmental delays. Common health problems associated with Down syndrome include heart defects, gut problems, low immunity, hearing and sight impairments, and an increased risk of developing certain types of leukemia and Alzheimer’s disease in later life. There is currently no cure for Down syndrome, but early intervention programmes and special educational support can significantly improve the quality of life for those affected.

2. Terminology

The term “Down syndrome” was first used in 1866 by British doctor John Langdon Down. He used it to describe the features he observed in a group of children with intellectual disabilities who shared similar physical characteristics, including short stature, flattened facial features and an upward slant to the eyes. The condition was initially known as “mongolism” because of the similarity between these children and those with Mongolian descent. This term is now considered offensive and is no longer used.

3. Symptoms

All individuals with Down syndrome experience some degree of learning difficulties and developmental delays. The severity of these symptoms varies from person to person, but all people with Down syndrome have some form of intellectual disability. Many also have physical characteristic features, such as a flattened facial appearance, small head size, short stature and an upward slant to the eyes. Common health problems associated with Down syndrome include heart defects, gastrointestinal problems, hearing impairments, visual impairments and a greater susceptibility to certain types of infections and leukaemia.

4. Prevention

There is currently no way to prevent Down syndrome. However, if you are pregnant over the age of 35 or have a family history of the condition, you may be offered screening tests to assess your risk of having a baby with Down syndrome. These tests are optional and you do not have to take them if you do not want to. If you do choose to have screening tests, you will be offered two types: blood tests and nuchal translucency scan. Blood tests measure levels of two proteins (alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG)) in your blood; high levels indicate an increased risk of having a baby with Down syndrome. A nuchal translucency scan uses ultrasound to measure the clear space at the back of your baby’s neck; a larger space than normal indicates an increased risk. If either of these tests show that you are at high risk of having a baby with Down syndrome, you will be offered further testing (amniocentesis or chorionic villus sampling) to confirm the diagnosis. These tests carry a small risk of miscarriage, so you will need to weigh up the risks and benefits before deciding whether or not to have them.

5. Treatment

There is currently no cure for Down syndrome, but early intervention programmes can improve cognitive function and help prevent some associated health problems. Early intervention programmes provide support for families from the time of diagnosis and focus on maximising your child’s potential through stimulating activities and tailored therapies.
Associated health problems such as heart defects, gastrointestinal problems and hearing impairments can be treated with surgery, medication or other therapies. Regular medical check-ups are important for people with Down syndrome to help identify any health issues early and ensure they receive the appropriate treatment.

As people with Down syndrome age, they are at increased risk of developing Alzheimer’s disease. There is currently no effective treatment for Alzheimer’s disease, but research is ongoing and treatments are being developed.

6. Conclusion

Down syndrome is the most common form of intellectual disability, affecting around 1 in every 1000 live births globally. The severity of symptoms varies from individual to individual, but all people with Down syndrome experience some degree of learning difficulties and developmental delays. Common health problems associated with Down syndrome include heart defects, gut problems, low immunity, hearing and sight impairments, and an increased risk of developing certain types of leukemia and Alzheimer’s disease in later life. There is currently no cure for Down syndrome, but early intervention programmes and special educational support can significantly improve the quality of life for those affected.

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