Scientists Investigate New Genetic Causes of Autism and ADHD

Could scientists have finally unlocked the genetic causes behind autism?

Among neurodevelopmental disorders, autism and ADHS share a number of things in common. Both are two of the most frequently diagnosed disorders in children, both are very heritable, and although the symptoms vary, both share key underlying genetic origins.

Heading the study into the genetics behind both autism and ADHD is Professor Anders Børglum.

Researchers have identified five gene variants that are unique to one of the two diagnoses and seven different genetic variants that are shared by autism and ADHD.

“We have succeeded in identifying both shared genetic risk variants and genetic variants that differentiate the two developmental disorders,” says Professor Anders Børglum of the Department of Biomedicine at Aarhus University and iPSYCH, Denmark’s largest research project within psychiatry.

“That means that we are beginning to understand both the biological processes that are behind the development of both diagnoses, and – as something completely new – also the processes that push the developmental disorder specifically in the direction of either autism or ADHD.”

Nerve cells within the brain, and also how the brain communicates and grows, are impacted directly by gene variants. So it’s also important to note that some of the different genetic variations which were identified in the study can have an effect of people’s cognitive skills.

For example, researchers observed that some genetic variants which raised the risk of autism also boosted cognitive skills in some people. However, at the same time, complementary variants which increased the risk of ADHD also lowered cognitive functions in some individuals.

They also identified a gene variant that increased the chances of autism while decreasing the volume of particular brain regions.

The study is one of the first in the world, which shows that people with ADHD or autism are double burdened with a genetic risk of getting both diagnoses. While people with only one or the other only have a genetic risk of one condition.

“This means, for example, that people with both diagnoses have both an equally large load of ADHD genetic factors as people who only have ADHD, and at the same time the same large load of autism genetic factors as people who only have autism. So, it makes very good biological sense that some people have both diagnoses,” says Anders Børglum.

“The autism diagnosis is typically made before an ADHD diagnosis. So if, for example, the person is also hyperactive and finds it difficult to concentrate, this may well be slightly drowned out by the autism symptoms, and we may not see the ADHD challenges,” explains Anders Børglum.

“But if we have a genetic study of a person with an autism diagnosis, and we see a major genetic load of ADHD genetics, then it may be that we should monitor that person a bit more closely. In this way, we can in the future become quicker to spot the development and give the family good tools to handle this diagnosis, too.”

“But now we have shown that people with both diagnoses are in fact double burdened with the genetic risk of both developmental disorders. There is thus a clear biological difference between whether you have both diagnoses, or just one. The study is therefore a strong biological argument for the revised diagnostic guidelines, e.g. in the American Diagnosis and
Classification system for Mental Disorders (DSM-5), where it is now possible for the same person to receive both diagnoses,” says Anders Børglum.

“This is the first step. Here and now, the study is relevant because it helps to create a better understanding of the causes of the two developmental disorders, and in the long term, this can form the basis for better diagnostics and treatment.”

Scientists Investigate New Genetic Causes of Autism and ADHD –
Conclusion

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