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Genes Alter Brain Connections in Rare Behavioral Disorder

Government researchers have found that a rare behavioral abnormality is linked to neuronal dysfunction deep in the front center of the brain.

National Institutes of Health scientists used three different types of brain imaging to locate the specific brain region associated with a personality profile marked by overly gregarious yet anxious behavior.

This rare genetic disorder, called Williams syndrome, is characterized by abnormalities in the brain region called the insula. Researchers found that the more an individual with Williams syndrome showed these personality/temperament traits, the more abnormalities there were in this particular area of the brain.

“Scans of the brain’s tissue composition, wiring, and activity produced converging evidence of genetically-caused abnormalities in the structure and function of the front part of the insula and in its connectivity to other brain areas in the circuit,” explained Karen Berman, M.D.

Berman, Drs. Mbemda Jabbi, Shane Kippenham, and colleagues, report on their imaging study on Williams syndrome online in the journal Proceedings of the National Academy of Sciences.

“This line of research offers insight into how genes help to shape brain circuitry that regulates complex behaviors — such as the way a person responds to others — and thus holds promise for unraveling brain mechanisms in other disorders of social behavior,” said National Institute of Mental Health (NIMH) Director Thomas R. Insel, M.D.

Williams syndrome is caused by the deletion of some 28 genes, many involved in brain development and behavior, in a particular section of chromosome 7. Among deficits characteristic of the syndrome are a lack of visual-spatial ability — such as is required to assemble a puzzle — and a tendency to be overly friendly with people, while overly anxious about non-social matters, such as spiders or heights.

Many people with the disorder are also mentally challenged and learning disabled, but some have normal IQs.

Imaging has helped researchers determine that neuronal long-distance communications fibers apparently take a wrong track during early development. The abnormal neuronal tracts can be observed with brain imaging and correlated with behavioral presentations.

Evidence suggests that genes influence our temperament and the development of mental disorders via effects on brain circuits that regulate behavior. Since the genetic basis of Williams syndrome is well known, researchers were provided a unique opportunity to explore the relationship with neuroimaging.

Although the insula had not previously been studied in such detail in the disorder, it was known to be related to brain circuitry and certain behaviors, such as empathy, which is also highly prominent in the disorder.

Berman and colleagues hypothesized that the insula’s anatomy, function and connectivity would predict patients’ scores for Williams syndrome-associated traits on personality rating scales. Fourteen intellectually normal Williams syndrome participants and 23 healthy controls participated in the study.

Magnetic resonance imaging (MRI) revealed that patients had decreased gray matter – the brain’s working tissue – in the bottom front of the insula, which integrates mood and thinking. By contrast, they had increased gray matter in the top front part of the insula, which has been linked to social/emotional processes.

Diffusion tensor imaging, which by detecting the flow of water in nerve fibers can identify and measure the connections between brain areas, showed reduced white matter – the brain’s long-distance wiring – between thinking and emotion hubs.

Supplementary brain imaging was accomplished via positron emission tomography (PET) to track radioactively-tagged water in order to measure brain blood flow. This modality exposed activity aberrations consistent with the MRI abnormalities.

The PET scans also revealed altered functional coupling between the front of the insula and key structures involved in thinking, mood and fear processing. These structural and functional abnormalities in the front of the insula correlated with the Williams syndrome personality profile.

“Our findings illustrate how brain systems translate genetic vulnerability into behavioral traits” explained Berman.

Source: NIH/National Institute of Mental Health

Genes Alter Brain Connections in Rare Behavioral Disorder

Rick Nauert PhD

Rick Nauert, PhDDr. Rick Nauert has over 25 years experience in clinical, administrative and academic healthcare. He is currently an associate professor for Rocky Mountain University of Health Professionals doctoral program in health promotion and wellness. Dr. Nauert began his career as a clinical physical therapist and served as a regional manager for a publicly traded multidisciplinary rehabilitation agency for 12 years. He has masters degrees in health-fitness management and healthcare administration and a doctoral degree from The University of Texas at Austin focused on health care informatics, health administration, health education and health policy. His research efforts included the area of telehealth with a specialty in disease management.

APA Reference
Nauert PhD, R. (2018). Genes Alter Brain Connections in Rare Behavioral Disorder. Psych Central. Retrieved on September 27, 2020, from
Scientifically Reviewed
Last updated: 8 Aug 2018 (Originally: 21 Mar 2012)
Last reviewed: By a member of our scientific advisory board on 8 Aug 2018
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