Down syndrome is a genetic or chromosomal disorder and a lifelong condition that is caused due to an extra pair of chromosomes in the body. Normally, a baby is born with 46 chromosomes. The baby inherits one set of 23 chromosomes from their father and one set of 23 chromosomes from their mother. A child with Down syndrome has an extra 21st chromosome, increasing the total count to 47 chromosomes. This genetic variation causes delay in physical growth, brain development, and may cause mild to moderate intellectual disability.
Note:The medical term used to describe an extra copy of a chromosome is ‘trisomy.’ Hence, Down syndrome is also known as trisomy 21.
The signs and severity of Down syndrome may vary from one child to another. Some children may be very healthy while others may have serious problems with physical or intellectual development.
Typically, children with Down syndrome reach their developmental milestones at a delayed pace compared to other children who have normal physiological development.
Some of the common features of Down syndrome include:
Down syndrome is caused due the abnormal number of chromosomes in the body. Normally, a person has 46 chromosomes, but a child with Down syndrome has 47 chromosomes. This extra pair of chromosomes impact the physical development of the body and the brain.
Note: Down syndrome is not caused due to any environmental, ethnic, cultural, or intellectual factors.
Any one of these genetic variations can cause Down syndrome:
The chances of passing this extra genetic material also depends on the parent who carries this rearranged chromosome 21:
- If the father is the carrier, the risk is around three percent
- If the mother is the carrier, the risk is between 10-15 percent
Some children with Down syndrome may have certain birth defect or medical problems. Doctors and experts monitor children for these issues and provide the required treatment and intervention.
Children with Down syndrome may have:
Doctors can diagnose Down syndrome during pregnancy or after the birth of the baby. It will be helpful if the test is conducted during pregnancy so that parents can be prepared for their child's special needs.
Down syndrome is a lifelong condition. Early intervention, treatment or therapy can make a major difference in improving the quality of the child's life.
Treatment focuses on providing regular medical checkups, and using intervention programs to help the child's physical and intellectual development.
Note:Children with Down syndrome should get their vision and hearing checked and tested regularly because most children can be affected with hearing and vision problems at any time in their life.
Early intervention program: Includes a combination of programs to help stimulate and improve sensory, motor, and cognitive functions. A team of special educators, pediatricians, physiotherapists, occupational therapists, and speech therapists work together in conducting this intervention program. They also work on developing the child's language, social, and self-help skills.
Parents or guardians go through an enormous range of emotions and can be quite distraught when they know that their child is diagnosed with Down syndrome. It may take a while for them to accept the situation, but over a period of time, they get a sense of strength and purpose in taking care of their child and helping them live a fully functional and productive life. This wisdom and insight is beyond any common man's understanding. Their next action is to provide the best possible intervention and treatment for their loving child.
Note: The best antidote for fear is information and support. A better understanding of Down syndrome and early interventions can greatly increase the quality of your child's life.
You can consider some of these suggestions to take care of your child:
Experts do not know how and why the chromosomes increase in number but they do speculate the risk factors that could increase the chances of a mother giving birth to a baby with Down syndrome.
Some of the risk factors include the following:
Down syndrome cannot be prevented but if you are at a high risk of having a child with Down syndrome or if you already have a child with Down syndrome, you may want to consult a genetic counselor before planning for your next child. A genetic counselor helps you understand your chances of having a child with Down syndrome, and how to deal with the situation. They also explain about the prenatal tests and their outcome.