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The study examined genetic variants in the genomes of 34,462 people diagnosed with autism spectrum disorder and/or ADHD, as well as 41,201 controls who were not diagnosed with these disorders (a so-called GWAS, genome-wide association study).
For each person, 8.
9 million frequently occurring genetic variants have been tested, and they are distributed throughout the
genome.
that affect the risk of ADHD and autism.
Among neurodevelopmental disorders, ADHD and autism have much in common: they are the most common mental illness diagnoses in children; Both are highly heritable; And, despite the different underlying symptoms, autism and ADHD overlap greatly in their underlying genetic
origins.
The study provides a new biological basis
for the development of autism and ADHD (or just one of the diagnoses).
Researchers have now identified 5 genetic variants specific to one of the two diagnoses, as well as 7 genetic variants
common to both ADHD and autism.
Professor Anders Børglum from the Department of Biomedical Sciences at Aarhus University and iPSYCH said: "We have successfully identified common genetic risk variants and those that distinguish between two developmental disorders
.
" iPSYCH is the largest research project in the field of psychiatry in Denmark and is behind
this research.
"This means that we are beginning to understand the biological processes behind these two diagnoses and – as something entirely new – the process
that drives developmental disorders in the direction of autism or ADHD.
"
The brain's nerve cells, and the way it grows and communicates, are affected
by genetic variations.
Another notable fact is that certain genetic variants have an impact
on a population's cognitive abilities.
For example, researchers may observe that certain genetic variants that only increase the risk of autism also improve an individual's cognitive function, while complementary variants that only increase the risk of ADHD decrease an individual's cognitive function
.
The researchers also found a genetic variant that increases the odds of developing autism while also reducing the size of a particular brain region in the general population, but this complementary variant increases the risk of ADHD while also increasing the size of the
same brain region.
This may seem obvious, but this study is the first in the world to show that people with both ADHD and autism have a double burden on genetic risk because they have both diagnoses, and people with only one diagnosis largely bear the genetic risk for only one variant
.
"This means, for example, that people with two diagnoses have as many ADHD genetic factors as people with ADHD, and as many autism genetic factors
as people with only autism.
" Therefore, it is very biologically reasonable for some people to suffer from two diseases at the same time"
.
The researchers analyzed the genetic atlas' massive data set to learn more about diseases and developmental disorders
.
This makes it possible to make more precise diagnoses and intervene earlier, and to ensure that individual patients receive the right treatment
.
The diagnosis of autism is usually made before the
ADHD diagnosis.
So, for example, if the person is also hyperactive and finds it difficult to concentrate, which is likely to be slightly masked by autism symptoms, we may not see the challenge of ADHD"
.
"But if we do a genetic study of a person diagnosed with autism and we see a major genetic load of the ADHD gene, then we should probably monitor that person
more closely.
" In this way, we can detect developments faster in the future and provide families with good tools to deal with this diagnosis
.
”
A few years ago, due to the official diagnostic hierarchy, it was impossible in principle to diagnose ADHD
in people with autism.
"But now we've shown that people with both diseases actually carry a genetic risk
of both developmental disorders.
" So there's a clear biological difference
between whether you have two diagnoses, or only one.
Therefore, this study provides a strong biological argument for revised diagnostic guidelines, such as in the American System for the Diagnosis and Classification of Mental Disorders (DSM-5), where it is now possible for the same person to get two diagnoses," Børglim said
.
"This is the first step
.
At this point, this study is relevant because it contributes to a better understanding of the causes of these two developmental disorders, which can form the basis for
better diagnosis and treatment in the long run.
”
Reference:
Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups
