1. Down Syndrome Is an Inherited Genetic Disease. FALSE
Down syndrome, or trisomy 21—named for the presence of three copies of chromosome 21—is a genetic condition caused by an abnormality during chromosome separation in meiosis, the process that produces reproductive cells. It is not inherited. Trisomy 21 has no degrees of severity; rather, its manifestations vary in significance from child to child.
2. Down Syndrome Is a Mild Disability. TRUE—AND FALSE
Here lies a paradox: prenatal screening leads families to believe Down syndrome is a serious disease, yet parents often struggle to find school and rehabilitation services for their child with Down syndrome because staff insist the child is "mild." The reality is more complex. Trisomy 21 can bring intellectual disability alongside medical complications—heart defects, thyroid problems, gluten intolerance—as well as sensory disorders (deafness, low vision) and sometimes autism-like behavioral disturbances. These latter problems are often reversible if caught early and treated with physical therapy and specialized teaching methods. The exception is children who develop a specific form of epilepsy called West syndrome in the first year of life. If undiagnosed and untreated, such children may develop profound intellectual disability and severe autism-spectrum behaviors.
3. Down Syndrome Cannot Be Cured. TRUE—AND FALSE
We might speak of cure in the strictest sense if we could remove the extra chromosome 21—technically impossible at present. That said, we have three therapeutic approaches.
First: medical management. We can treat and in some cases cure various complications of trisomy 21. Cardiac defects, for instance, affect 45 percent of people with Down syndrome and are now surgically correctable. The challenge is identifying medical problems early.
Second: rehabilitation and education. The American researcher Charles Epstein observed that over twenty years, people with Down syndrome in the United States gained an average of twenty IQ points thanks to medical care and specialized education.
Third: medical research. Several promising avenues are pursuing treatments that can improve immediate memory and thus learning ability. An extract from green tea is being studied in adults with trisomy 21. The Jérome Lejeune Institute is currently following a research project called ACTHYF, which investigates whether folic acid (vitamin B9) and thyroid hormone supplementation might enhance psychomotor development in infants with Down syndrome.
4. Only Women Over Thirty-Five Can Have a Baby With Down Syndrome. FALSE
Any woman can have a child with Down syndrome, but maternal age is a significant risk factor. The risk is lowest between ages 19 and 27—about one in 1,500 at age twenty. It becomes meaningful at thirty-eight and reaches one in 100 at forty. Additional risk factors include smoking, crash diets (which cause folic acid deficiency), and exposure to ionizing radiation.
5. People With Down Syndrome Have a Short Life Expectancy. FALSE
That was true ten years ago. Today, with regular medical care, people with trisomy 21 have a life expectancy practically identical to the general population. Some older adults show brain changes resembling Alzheimer's disease, but in most cases what appears to be premature aging stems from depression, unrecognized physical pain, or treatable medical complications—epilepsy, sleep apnea, vitamin deficiency—that can be addressed.
6. Most Children With Down Syndrome Are Born to Catholic Families. FALSE
This was true in France thirty years ago. Then, those who refused abortion were mostly practicing Catholics. Today it is less true—partly because more babies with trisomy 21 now pass through prenatal diagnosis, and partly because French society has changed. At the Lejeune Institute, we often see many children with trisomy 21 born to Muslim families, because Islam prohibits abortion after the third month (in France, abortion is legally available through the ninth month). We also encounter couples with no religious affiliation who accept a pregnancy involving Down syndrome. It seems to me that economics now matters more than religion—though not in the way one might expect. In fact, families of modest means often show the deepest welcoming spirit. They tend to be less concerned with appearance, more open to advice, and quicker to accept help from a social worker or psychologist.
7. People With Trisomy 21 Cannot Be Truly Happy Because of Their Difference. FALSE
The secrets of happiness are the same for a person with Down syndrome as for anyone: feeling loved, feeling useful, having projects. Being "normal" is not what makes people happy. We caution parents against "integration at all costs into mainstream settings," which can ultimately isolate the child with Down syndrome. Often over the years, a natural separation occurs between the young person and the non-disabled peers he or she once played with. By adulthood, the risk is that parents grow old, the person's world shrinks, and depression sets in. To thrive, a young person with Down syndrome needs activities with people like themselves—to build lasting friendships—and daily tasks suited to their pace. This does not preclude meaningful contact with the broader community.
Dr. Aimé Ravel
from Ombre e Luci, no. 193, 2013