Understanding Down Syndrome: Causes, Symptoms, and Treatments


First discovered by Dr. John Langdon Down in 1866, knowledge about the Down Syndrome has come a long way from mere rudiments of an observation that people affected share physical characteristics, developmental delays, and learning disabilities. The first name given to children having this condition is “Mongoloid.” The reason for this was because Dr. Down compared their appearance to children from Mongolia thought to have some kind of genetic anomaly. This insult enraged the Asians that it the name was changed to Down’s syndrome or, as it is known now, Down syndrome. Before reading this make sure you read my FAQ list I have done on this subject.

Causes of Down Syndrome

Down Syndrome occurs when an irregular chromosome manifests in a person’s body cells. It may also result from an extra chromosome in one or all cells. Both are consequences of abnormal cell division in the egg which up until now, scientists could not explain.

Common Symptoms

Having Down syndrome is apparent on a person’s appearance–a flat face and nose, eyes which are slightly tilted upward, a small mouth. Other signs which are not tangibly manifested may include below average intelligence, slow and delayed development of motor skills, intestinal abnormalities, irregular ear structures, heart defects and irregular respiratory tract structures.

Even if your baby is still unborn, Down syndrome can be detected. This will help the family prepare for caring for a special child and plan for his or her education and other support systems. The most common method is the fetal ultrasound. You can also use the maternal triple screen test, also known as the maternal serum screening. Blood is taken from the woman and checked for alph-fetoprotein, human chorionic gonadotropin, and unconjugated estriol to calculate the probability of the baby having Down syndrome. Also included in the formula are the fetal’s and the mother’s age. The third method has risks, thus there are requisites before it can be performed. You must be at least 35 years old, has had abnormal triple screen test or ultrasound, your family has a history of the syndrome or you have had a child with this condition. This method is called karyotyping. It can also be performed after birth if Down syndrome, based on your child’s features and earlier tests, is highly suspected.

Your Treatment Options

Treatments of Down Syndrome include counseling, speech therapy, physical therapy, occupational therapy, and regular trips to the doctors to monitor your child’s condition especially the heart and respiratory system. You can also enroll your child in support groups to develop his or her social skills. Keep in mind that this condition is life-long and thus the purpose of treatment is not to dispense with the syndrome but to make your child function as a responsible individual and citizen in the future.