New Method to Diagnose Some Diseases Early (Not Autism, Yet)

There is currently no medical or biological test for autism. Some researchers have noted that a blood test might be developed for autism: Today’s Science Daily reports on how researchers at Purdue University in collaboration with the Indiana University School of Medicine have established a technique that uses a simple chemical reaction to detect a number of genetic disorders in infants and young children. (Autism is not specifically mentioned in the article, nor are any other disorders specified.) The technique improves the ability to detect certain molecules in blood and urine and “makes the markers for some genetically caused metabolic disorders up to 100 times more visible.” Said Daniel Raftery, a Purdue professor of analytical and physical chemistry:

“This technique allows us to profile a class of biomarkers – molecules that indicate disease – that would otherwise be very difficult to detect….The increased sensitivity could allow doctors to diagnose a range of diseases at very early stages.”

While autism is not specifically mentioned in the Science Daily article (which also does not specifically any disorders), some evidence of metabolic disorders in some autistic children has been found, such as a study from the Kennedy Krieger Institute that found that a “small subgroup of children with ASD have abnormally low cholesterol levels (hypocholesterolemia),” due to abnormal cholesterol metabolism; some biomedical practitioners have linked autism to metabolic disorders.

The researchers’ findings about early disease diagnosis caught my eye because, last night, Jim and I were reflecting last night on how we felt on finding out that Charlie had autism, back in the winter and spring of 1998; Charlie’s official diagnosis occurred 8 years ago today, on July 22, 1999. Jim accepted Charlie’s diagnosis quickly and was completely saddened. I was in denial for a few months—I kept hoping the insertion of ear tubes would lead to Charlie starting to talk, I well remember—and then, diagnosis understood, began to learn what to do and became emboldened by the effort. The thought of any test that might detect autism in very young children—-in newly born infants—-raises a lot of difficult questions. I think such a test is inevitable and that we should be ready to address the results. A better understanding of autism as a lifelong condition can help, as can representations of life with autism that emphasize how things can be difficult, different, and good indeed, of how much autistic kids like Charlie—-walking around the New York Public Library with me yesterday as we waited for Jim who was doing some research for his book—-can learn and can become.