Down Syndrome

Down Syndrome

Although many theories have been developed, it is not known what actually causes Down syndrome. Some professionals believe that hormonal abnormalities, X-rays, viral infections, immunologic problems, or genetic predisposition may be the cause of the improper cell division resulting in Down syndrome.

It has been known for some time that the risk of having a child with Down syndrome increases with advancing age of the mother; i.e., the older the mother, the greater the possibility that she may have a child with Down syndrome. However, most babies with Down syndrome (more than 85 percent) are born to mothers younger than 35 years. Some investigators reported that older fathers may also be at an increased risk of having a child with Down syndrome.

It is well known that the extra chromosome in trisomy 21 could either originate in the mother or the father. Most often, however, the extra chromosome is coming from the mother.

Description

People with Down syndrome are first and foremost human beings who have recognizable physical characteristics and limited intellectual endowment which are due to the presence of an extra chromosome 21.

The estimated incidence of Down syndrome is between 1 in 1,000 to 1 in 1,100 live births. Each year approximately 3,000 to 5,000 children are born with this chromosome disorder. It is believed there are about 250,000 families in the United States who are affected by Down syndrome.

The vast majority of children with Down syndrome (approximately 95 percent) have an extra 21 chromosome. Instead of the normal number of 46 chromosomes in eachcell, the individual with Down syndrome has 47 chromosomes. This condition is called trisomy 21.

The second type is called translocation since the extra 21 chromosome is attached or translocated on to another chromosome, usually on chromosome 14, 21 or 22. If translocation is found in a child with Down syndrome, it is important to examine the parents’ chromosomes, since in at least one-third of the cases, a parent may be a carrier of the translocation. This form of chromosome error is found in 3 - 4 percent of the individuals with Down syndrome.

Diagnosis

The child with Down syndrome is in need of the same kind of medical care as any other child. The pediatrician or family physician should provide general health maintenance, immunizations, attend to medical emergencies, and offer support and counseling to the family. There are, however, situations when children with Down syndrome need special attention.