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Researchers identify a distinct genetic brain circuit linked to autism spectrum disorder

Abnormal connectivity in the brain consists of disturbance of communication between different brain regions, and can be impaired separately, or in connected groups. This is the major finding of SPARK-TST, an international collaboration funded by the German Federal Ministry for Education and Research Heads of the Ruhr-Universität Bochum (RUB) were able to identify specific brain network circuits used in the early stages of autism. The discovery is interesting for theoretical models of this neurodevelopmental disorder, and is published in Nature Communications.

Autism is a neurodevelopmental disorder that affects about one in every 40,000 people. Symptoms usually occur between the ages of two and four, and cognition and behavior problems can begin several years before this. “The brain circuitry for autism is cortical reorganization, which is usually very impaired individually. However, it can completely disappear if this impairment is brought about together with several other psychiatric disorders,” explains the RUB researcher Professor David Hooton Stein, whose group has focused on decoding the fundamental neural mechanisms involved in autism development over the last 10 years.

The assessment of cortical connectivity is particularly important for scientists and clinicians. “Our study, which is based on measurements of brain activity, provides neuropsychological insight into autism spectrum disorders and identifies specific brain network circuits,” explains Professor Stein, RUB. For the future, it is hoped that this work will help in this systematically important disorder.

A broad perspective.

The study was based on 42 participants with autism and 32 healthy individuals. The group was divided into two: 30 autistic individuals had already been diagnosed with autism spectrum disorder (ASD), and 29 healthy individuals showed no external symptoms of autistic-like symptoms. “Our individual results showed numerous abnormalities in brain network connectivity in the frontal and temporal lobe in response to the autism-like sound pressure. The areas studied were activated in a distinct manner in certain participants at the time window of the auditory brainstem,” the RUB neuroscientist explains.

Published in nearly a thousand articles, this international project has reached a population of more than a million individuals with autism, and under the guidance of RUB neuroscientist Dr. Thomas Eigentler and Professor Vladimir N. Odorichenko, it is also now focused on this neurodevelopmental disorder in the context of common psychiatric disorders such as autism and schizophrenia. “I bet any psychiatrist who works in the clinic for those with a similar condition will be able to distinguish someone suffering from one of these disorders. This is a requirement of neurodevelopmental research,” the RUB researcher exclaims.

ZigZag magnetic resonance imaging (Z-M), an advanced technology that allows the ability to detect whole brain activity, as long as it is not affected by light or sound, has been applied in small-scale for several years now to enable an unprecedented level of assessment of brain activity. “We can now measure magnetic resonance and demonstrate functional connectivity in people with autism from brain scans. These brain imaging technologies allow us to uncover an entirely new brain region and to investigate how it develops in early stages of development,” explains Stein. “The cerebellum – the part of the brain that the adult brain contains for consciousness and movement – is still not fully developed in people with autism. These brain brain regions are responsible for certain comorbidities in autism. This brain area was clearly more active in those with autism. But this was also correlated with certain psychiatric disorders. The results imply that the cerebellum plays, or plays a fundamental role in, autism.”

The RUB team was a semicircle of people with and without a diagnosis of schizophrenia. “Our study takes a new approach than previous studies. It focuses on brain region in different cases. For example, we can compare individuals on the autism spectrum with anxiety levels and mood disorders. Sometimes, the difference could be seen in the cerebellum, but times were not such. If there were big differences between the two brain regions, that would suggest that there was a neurological or genetic basis to them. The latter can be a very disruptive factor. But we saw it instead in the cerebellum where major degrees of magnetic resonance remained unaffected,” explains Thomas Eigentler, who initiated and carried out the study. In the end, both brain regions were linked to the overall outcome of autism.

Thomas Eigentler and Vladimir N. Odorichenko are international leaders in this field. In 2016, they received the William Bugg Award for the discovery of an understudied brain region that plays an important role in autism between individuals with autism and those without. “To our surprise, it had not yet been identified. Does it make sense for one to assume that there is something to this understudied brain region? Our quest has now led to this discovery. It is an entirely new area: It was its first link with neurological conditions,” explains Stein.<|endoftext

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