Universal Screening: No More Down Syndrome Children?

A non-invasive screening for Down syndrome could replace 98% of amniocentesis, claim the authors of a recent study. But advocates for families of people with Down syndrome have expressed concern that universal access to a safe, first trimester test would mean a larger number of women being pressured by doctors to terminate pregnancies if the fetus tested positive for the condition, otherwise known as trisomy 21.

Dr. Brian Skotko specializes in Down syndrome, and was interviewed for a recent Time magazine article. He welcomes the new test, but is also concerned about the potential downside. "81% of medical students reported they get no medical education about people with intellectual disabilities," says the article. Shotko wonders how doctors will counsel an expectant mother after a positive test result for trisomy 21. His own research has found that incidence of the condition dropped significantly with improved screening options, when projections based on maternal age show there should have been many more babies born with Down syndrome in recent years.

Could universal access to a safer screening mean the eventual elimination of all Down syndrome children? “As a clinician," he says, "I raise it as an open question. It's a question of which forms of life are valuable.”

As the mother of a child with autism I have been confronted with a similar question: if current DNA research led to gene therapy that could "cure" autism, would I want my son to receive the treatment? It is tough not to want the very best for our kids, and reducing the challenges they face in life is certainly an attractive proposition. But would he still be the same boy afterwards? I wonder if he would, or whether it would change him forever. Autism is part of what makes my child who he is: it is part of his world view and it has shaped his personality since he took his first breath in this world. Could I bear for him to lose something that integral to his very being? Could he?

Understanding Autism Treatment

Autism is a lifelong disability that affects not only the person diagnosed, but their entire family. When a child has autism even the simplest activities such as feeding, bathing, cuddling, sleeping and play are a challenge for parent and child. Autism is a pervasive developmental delay - that is, children with autism chronically lag behind their peers by at least six months and often more. Many begin school non-verbal, not yet toilet trained, not able to dress themselves, certainly not ready to tackle reading, writing and arithmetic. Because social interactions are impaired, it is common for them to have difficulty socializing with their classmates or understanding the rules of the classroom or playground. They may not be capable of keeping quiet in the library or during a test. Tantrums are also quite common.

Treating autism

The only medically approved treatment for autism to date is a behaviour-based therapy such as Applied Behaviour Analysis (ABA - sometimes called Intensive Behavioural Intervention, or IBI.) This is often delivered in an educational setting, or in a preschool setting that places emphasis on play and social interaction. An example of the latter would be the Early Start Denver Model. Parents of kids in behavioural programs may begin to see progress in the first few sessions. I know I did with my son. But that progress was just tiny baby steps, little things like him learning to imitate a gesture the therapist demonstrated. It can be years before all the little improvements begin to add up in such a way that the casual observer will recognize a significant change.

Read more...