Why we cannot screen for autism
As a pregnant woman, I was offered the chance to test my unborn child for certain birth defects, including Down Syndrome.
I declined the test, stating that it didn’t matter to me what the result was, and to be honest I didn’t want to know.
I would deal with my baby and whatever joys and challenges and stresses and pain and celebration and love and surprises he had for me once he was born.
But at the time I remember thinking, why can’t we screen for autism?
What is autism?
Autism Spectrum Disorder is a lifelong developmental condition that greatly affects an individual’s behaviour and their ability to interact with other people. It can be characterised by restricted or repetitive interests, activities or behaviours and difficulty with social interaction and communication.
It is a spectrum because every person with autism has a different level of severity of these symptoms; some may lead relatively normal lives whereas others may need permanent supportive care. Asperger’s Syndrome is one condition on the ‘high-functioning’ end of the spectrum.
What are the characteristics?
Often sufferers will have physical or sensory repetitive behaviours, difficulty making eye contact and talking to people or touching them, and difficulty picking up on other people’s feelings and cues. They may have anintellectual impairment or learning difficulties, although at times they can also be incredibly intelligent and gifted.
They may be unable to cope with noises like hair dryers or vacuum cleaners, unable to walk on certain surfaces, or uncomfortable with enclosed spaces.
Some children on the high functioning end of the spectrum can be schooled at regular schools with limited assistance (which is government funded in Australia), or those on the more severe or low functioning end may go to autistic specialist schools, where classes might be five students to one or two teachers.
An estimated 1 in 100 people has ASD.
When does diagnosis occur now?
Diagnosis for autism can occur at a variety of ages. Children as young as 12 months can show behaviours that are synonymous with the disorder (such as not making eye contact, not returning smiles, repeatedly flapping or spinning hands).
Usually children with autism will have missed certain developmental milestones by the time they are 18 months to 24 months old (not interacting with other children, language skills undeveloped, not being able to point or wave).
People on the high functioning end of the spectrum may not be confirmed as autistic until later in childhood, in their teens, or even into adulthood. Some may never be diagnosed.
For a checklist to help with diagnosis in young children see: (link at bottom)
What can we screen for now?
There are two kinds of prenatal tests to check on the health of your baby, prenatal screening and diagnostic testing.
#1 Prenatal screening
Prenatal or pregnancy screening checks the likelihood of a condition being present, but won’t give a definite answer. These tests include testing blood for chromosomal abnormalities or neural tube defects (such as spina bifida) or measuring the baby’s neck to check for chances of Down Syndrome.
#2 Diagnostic testing
Diagnostic testing can be more invasive of the two, with a small risk of miscarriage, but it gives a definite yes or no answer for the parents. It is usually done with a needle taking a sample of the placenta or amniotic fluid to test the cells.
If a serious genetic condition is present in the family history, or if you are an older mother, you may consider this form of test. If prenatal screening has already been done and shown a high likelihood of a condition, then the parents may choose diagnostic testing to confirm.
How far advanced are we with autism screening?
In the last several years, the debate has been rife over whether screening for autism should be allowed. At present, through IVF, embryos can legally be screened to reduce the likelihood of autism.
This is done by implanting only female embryos because the incidence of girls with autism is lower than boys (1 in 4 children with autism are girls). The screening is apparently only available for families at high risk, such as those who already have two boys with autism,and are not available to just anyone yet.
When does screening for baby conditions happen now?
There are two categories of prenatal screening for foetal conditions, with two responses.
Pregnancy screening happens when the mother is already pregnant, and her response to negative screening could be to terminate the pregnancy.
Screening in the IVF process occurs in the fertilised embryo outside the womb, and if negative results come up, the parents can choose not to implant that embryo.
Both have the effect however of reducing or removing people with that condition from the gene pool, which is why the incidence of Down Syndrome has greatly reduced.
There currently aren’t screening tests in either pregnant women or through IVF that can test for autism at this time.
Autism can’t be diagnosed in the womb or embryos yet because experts don’t know exactly what causes it. It is a genetic condition, but there are many different combinations of genes that may result in a diagnosis of ASD.
Environmental factors may also play a part. It is not something specific that shows up in the mother’s blood or the foetus’ cells, it is usually only characterised by early behaviour.
Experts and opponents consider that it will only be a matter of time, however.
The arguments against: why we shouldn’t have screening for autism
In recent years, large embryo banks have started ‘screening’ for autism, which has opened up theinevitable debate, and strong feelings on both sides. Should we test for autism? If the test comes back positive, will parents terminate their pregnancy?
The statistics around Down Syndrome screening indicates that yes, parents will to a large extent, take the opportunity to terminate a pregnancy that shows a high risk of autism.
Studies show that when screening comes back positive for Down Syndrome, parents are choosing to terminate pregnancies in around 90% of cases.
While many parents would welcome the existence of autism screening tests, the ability to screen in such a fashion could be called eugenicist, which is any scientific or medical advances that advocate improving a population’s gene pool. This sort of advancement can be considered negative by large groups in the community.
Being able to screen for autism is problematic for a number of reasons.
Firstly, autism is a spectrum, and the question arises, at what point on the spectrum is considered the point where you would terminate the pregnancy? If testing only showed that your child was likely to be on the autistic spectrum, but if later you found out it was at the very high functioning end, would or should you not terminate?
What happens when we remove autistic people from the world? While parents and teachers raising children with autism might see some relief in the daily difficulties of this, people with autism are individuals with worth, personality and love who have a place to play in the world.
Some people with autism may have had the most incredible impact on science, art and society, including possibly Einstein, Mozart, Michelangelo, Darwin, Isaac Newton, Thomas Jefferson, Andy Warhol and Stanley Kubrick.
More significant in recent times, it is speculated that both Steve Jobs and Bill Gates could be identified as on the autism spectrum. While these are speculative guesses only, it is without a doubt that autistic people have lived and positively affected others’ lives throughout time.
What do the experts say?
Professor Andrew Whitehead, an authority on childhood health research had this to say:
“It is without question that a person’s life would be improved if they were free from intellectual disability, if they had the facility to communicate more freely, and if they had the capacity to live independently.
To want a person to live without disability does not diminish in any way our love for people in these circumstances, nor their irreplaceable importance in our lives.
Only a minority of our community know the challenges (and joys) of raising a child with significant disability. It is just plain wrong for people who have never been in this position to judge the wants and desires of those who have.”
People and families with autism, as well as medical experts, would need to be involved in decisions around whether screening for ASD is a good idea or has negative genetic consequences.
We can’t screen for it yet, but the consensus is that science will soon be able to find a way, and the problem will move from whether or not we can to whether or we should.
More famous people who may be on the autism spectrum
Emily Dickinson – Poet
Hans Christian Anderson – Author
Lewis Carroll – Author
Dan Ackroyd – Actor
Daryl Hannah – Actress
Tim Burton – Director
Jerry Seinfeld – Comedian
Susan Boyle – Singer
Satoshi Tajiri – Creator of Nintendo’s Pokémon