“SickKids Hospital scientists figure out formula for predicting autism.”
June, 2014: An international group of genetic researchers including Toronto SickKids Hospital top-gun Dr. Stephen Scherer have pushed us one step closer to understanding the genetic underpinnings of Autism Spectrum Disorder (ASD). Previously, years ago, they discovered about one-hundred genes that are associated with the wide range of cognitive, social, and communication delays and impairments that make up the symptoms of ASD. However, as Dr. Scherer himself clarified, “we don’t know exactly what autism symptoms these genes are associated with.” Specifically, which genes control which behaviours?
Listen to CBC radio interview: Jonathan Alderson discusses the implications of the research. Please click white arrow below:
In this latest research Dr. Scherer and colleagues have looked even more microscopically close at tiny parts of individual genes called exons. Each gene has many
exons and each exon determines codes for proteins and other building blocks of the nervous system and brain. The new focus on exons may help researchers to more accurately predict which cognitive functions and behaviours are affected by the mutations.
However, we need to be cautious when drawing the practical implications from this study.
The Globe and Mail reported that “Researchers have found a way to predict autism at a younger age, which will enable critical interventions to occur much earlier in a child’s life” (The Globe and Mail, May 25, 2014.)
The Toronto Star Newspaper reported that researchers have “created a formula” for determining which mutations are likely to lead to autism and which are not” (May 31, 2014.)
No, not unless a 20 percent chance counts as “likely.”
You see, a few lines further down in the newspaper article it’s reported that only about half of those diagnosed with autism will carry the mutations and some of their siblings will carry the same mutations yet be unaffected.
So while the research advances our understanding of some of the underlying biological mechanisms of autism and it has many important implications, it’s not quite a certain or reliable “formula” for predicting autism.
I’m an optimist by nature. I believe it is important to encourage parents of these special needs children to feel hopeful. Many children with autism can learn a lot and may have talents and skills to be nurtured. At the same time, we should be careful about spreading hype. Let’s be accurate. Dr. Scherer and colleagues accurately reported their findings.
The media’s interpretation of the research is misleading.
Specifically, it’s not really true that the research will lead to children getting an autism diagnosis earlier. There already exist several diagnostic tests which can identify early signs of autism in children as young as 2-6 months of age (although none are commonly used in Ontario.) Dr. Scherer’s genetic testing can identify genetic mutations several weeks earlier, right at birth, but finding the mutations is not conclusively mean a child will manifest autistic symptoms. The prognosis would be to “wait and see” as the child’s development unfolds. Yes, a child with the mutations would be monitored much more closely from a much younger age which may mean in some cases a slightly earlier diagnosis. This part is true and is a positive advancement. However, given the current behaviour-based criteria for diagnosis (which is required even in the presence of early detected gene mutations) the genetic identification of mutations would not in fact lead to an earlier diagnosis of autism.
Secondly, even if, somehow, a child could be identified at birth as highly likely to have autism, there are no interventions that currently exist that would start at the newborn stage of development. Here in Ontario, children as young as 2 years old are receiving therapy. How much younger could we begin treatment? There are no treatments that I’m aware of that would be started any earlier than say about 2 years of age, at the earliest. Until some more targeted pharmacological treatments or genetic engineering for infants is invented, early genetic-mutation-identification does not yet translate to earlier treatment interventions than what already exist.
However, beyond the headlines, there are other positive benefits to reporting the findings:
When researchers link autism to biological etiologies, negative stereotypes of misbehaving children and bad parenting are busted.
Autism is a biologically-based disorder. People with autism don’t talk loudly or get fixated on objects or behave differently because they are misbehaving. More discipline is not what’s needed. Their parents are like you and me, trying their best to raise well-adjusted happy kids. When we know that autism has a genetic component we can be more empathic and more patient. We can let go of old judgments toward autistic children and their parents.
Every time researchers discover another biological link to autism we take a next step closer to possible biological treatments.
Currently, and for the past several decades, the main treatment is behavioural intervention using applied behaviour analysis. The results can be quite good for about half of the children in the programs. But there is much more going on in people with autism than simply disordered/ different behaviour. The genetic research highlights a gap between what biomedical researchers are discovering and the limited behavioural treatment on offer. The more that popular media discuss biomedicl-based research, the more likely funders, policy makers, and service providers will consider biological treatments.
We should continue to support genetic and other biological research on the mechanics of autism. At the same time, media reporters should take greater care to not exaggerate the implications. The rest of us should read autism research headlines cautiously, yet remain optimistic.