The previous part of the serialized book on prenatal testing and Down syndrome addressed the first part of the name for the condition my daughter and hundreds of thousands others have. This post examines why that condition is still referred to as a “syndrome.”
Medically-speaking, a “syndrome” describes a group of symptoms that occur together and characterize a particular condition. This is what Dr. Down did when he wrote the first paper describing Down syndrome. He described a group of symptoms that occurred with certain of his patients with intellectual disability that seemed to characterize their particular condition.
Syndromes, however, are named that because the underlying cause for the condition is unknown. AIDS, Acquired Immune Deficiency Syndrome, was termed that because its cause was not known until the Human Immunodeficiency Virus (HIV) was discovered. SARS, Severe Acute Respiratory Syndrome, was so named because patients were exhibiting a group of symptoms before the discovery of the underlying cause, the coronavirus (something we have become all too familiar with since 2020). In the case of Down syndrome, though, the cause of the condition described by the characteristics of the syndrome has been known since the 1950’s with Dr. Lejeune’s discovery of the presence of an extra chromosome.
The continued use of the word “syndrome,” is regrettable. It’s difficult to think of a condition described as a “syndrome” that people would want to have. Almost universally, something described as a “syndrome” is something to be avoided and even feared. In pop-culture, the China Syndrome, was a movie about a nuclear reactor meltdown. Stockholm syndrome describes a hostage becoming sympathetic to the views of her captors. And, for many children today, “Syndrome” is the villain in the Pixar movie, The Incredibles.
As discussed in the previous section, the name still used for the condition my daughter and many others have suffers from the connotation from the first word, “Down,” as being descriptive of their abilities rather than simply being the surname of the doctor who first described the condition when it was a “syndrome,” a condition of unknown original. Couple that negative connotation of the first word with the negative connotation of “syndrome” and it’s a double whammy to overcome from the start of a medical provider or educator seeing on a child’s file that he or she has “Down syndrome.” Similarly, parents, too, must overcome the first negative impression given when they are told that their child has a condition with an outdated and unsupportable name that has double negative connotations.
So why is Down syndrome still a “syndrome” when its cause has been known for over 50 years? Essentially, because we keep calling it that.
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