News | Neuro Imaging | August 09, 2017

MRI Reveals Striking Brain Differences in People with Genetic Autism

Brain scans reveal volume changes correlating to better or worse cognitive assessments

MRI Reveals Striking Brain Differences in People with Genetic Autism

Example images for a control participant , a deletion carrier, and a duplication carrier. In the sagittal image of the deletion carrier, the thick corpus callosum, dens and craniocervical abnormality, and cerebellar ectopia are shown. For the duplication carrier, the sagittal image shows the thin corpus callosum and the axial image shows the increased ventricle size and decreased white matter volume. Image courtesy of the Radiological Society of North America (RSNA).

August 9, 2017 — In the first major study of its kind, researchers using magnetic resonance imaging (MRI) have identified structural abnormalities in the brains of people with one of the most common genetic causes of autism. The study was published online in the journal Radiology.

The abnormalities visible on brain images corresponded to cognitive and behavioral impairments in the study group, suggesting a future role for imaging in identifying people with autism who are in most urgent need of intervention.

Autism spectrum disorders are a group of developmental problems, affecting more than 3.5 million people in the United States, according to the Centers for Disease Control and Prevention. Symptoms typically appear early in life and frequently include communication problems and repetitive behaviors. Many people with autism have abnormalities at a specific site on the 16th chromosome known as 16p11.2. Deletion or duplication of a small piece of chromosome at this site is one of the most common genetic causes of autism spectrum disorder.

“People with deletions tend to have brain overgrowth, developmental delays and a higher risk of obesity,” said study author Julia P. Owen, Ph.D., a brain researcher at the University of Washington in Seattle, who was at the University of California in San Francisco (UCSF) during the study. “Those with duplications are born with smaller brains and tend to have lower body weight and developmental delays.”

The researchers at UCSF and four other sites performed structural MRI exams on 79 deletion carriers, ranging in age from 1 to 48, and 79 duplication carriers, ages 1 to 63, along with 64 unaffected family members and 109 participants in a control group.

The participants completed a battery of cognitive and behavioral tests, and neuroradiologists reviewed the brain images for development-related abnormalities. The results showed some striking differences in the brain structures of deletion and duplication carriers compared with non-carriers. For instance, the corpus callosum — the fiber bundle that connects the left and right sides of the brain — was abnormally shaped and thicker in the deletion carriers but thinner in the duplication carriers, compared to the control group and familial non-carriers.

Other stark differences were apparent. The deletion carriers displayed features of brain overgrowth, including the extension of the cerebellum, the bottom back part of the brain, toward the spinal cord.

The duplication carriers showed characteristics of brain undergrowth, such as decreased white matter volume and larger ventricles — the cavities in the brain filled with cerebrospinal fluid.

When the researchers compared cognitive assessments to imaging findings, they found that the presence of any imaging feature associated with the deletion carriers — such as a thicker corpus callosum — indicated worse daily living, communication and social skills, compared to deletion carriers without any radiological abnormalities. For the duplication carriers, the presence of decreased white matter and corpus callosal volume and increased ventricle size was associated with decreased full-scale and verbal IQ scores, compared to duplication carriers without those findings.

Key to the study’s strength was its access to a large, diverse group of 16p11.2 deletion and duplication carriers, according to senior author Elliott Sherr, M.D., Ph.D., head of the Brain Development Research Program at UCSF.

“Often studies like this focus on high-functioning individuals, but this was an ‘all-comers’ group,” he said. “We didn’t do mathematical algorithms but rather used the trained eyes of neuroradiologists to evaluate the scans of a full range of individuals. When you look at a broad range of people like this, from developmentally normal to more significantly challenged, you’re better able to find these correlations.”

For more information: www.pubs.rsna.org/journal/radiology

Related Content

Ingenia Ambition X 1.5T MR. This innovation is the latest advance in the Ingenia MRI portfolio, which comprises fully-digital MRI systems, healthcare informatics and a range of maintenance and life cycle services for integrated solutions that empower a faster, smarter, and simpler path to enabling a confident diagnosis
News | Magnetic Resonance Imaging (MRI) | September 14, 2018
Philips, a global leader in health technology, launched the Ingenia Ambition X 1.5T MR.
Veye Chest version 2
News | Lung Cancer | September 11, 2018
Aidence, an Amsterdam-based medical AI company, announced that Veye Chest version 2, a class IIa medical device, has
Sponsored Content | Case Study | Magnetic Resonance Imaging (MRI) | September 07, 2018 | By Sabine Sartoretti, M.D.
As soon as the Compressed SENSE technology became available to the MRI team at Kantonsspital Winterthur (Switzerland),...

Image courtesy of Philips Healthcare

Feature | Magnetic Resonance Imaging (MRI) | September 06, 2018 | By Melinda Taschetta-Millane
According to the Prescient & Strategic Intelligence report, “Global Magnetic Resonance Imaging (MRI) Market Size,...
PET Imaging Agent Predicts Brain Tau Pathology, Alzheimer's Diagnosis
News | PET Imaging | September 05, 2018
Eli Lilly and Co. and Avid Radiopharmaceuticals Inc. announced a Phase 3 study of positron emission tomography (PET)...
Check-Cap Announces Interim Results of European Study of C-Scan System Version 3
News | Colonoscopy Systems | September 04, 2018
Check-Cap Ltd. announced the interim results for its post-CE approval study of the C-Scan system Version 3, an...
Brain Iron Levels May Predict Multiple Sclerosis Disabilities
News | Neuro Imaging | August 31, 2018
A new, highly accurate magnetic resonance imaging (MRI) technique can monitor iron levels in the brains of multiple...
Study Finds Multiple Sclerosis Drug Slows Brain Shrinkage

An NIH-funded clinical trial suggested that the anti-inflammatory drug ibudilast may slow brain shrinkage caused by progressive MS. Image courtesy of Robert J. Fox, M.D., Cleveland Clinic.

News | Neuro Imaging | August 30, 2018
August 30, 2018 — Results from a clinical...
Rapid Cardiac MRI Technique May Cut Costs, Boost Care in Developing World
News | Magnetic Resonance Imaging (MRI) | August 29, 2018
A newly developed rapid imaging protocol quickly and cheaply diagnosed heart ailments in patients in Peru, according to...
iSchemaView RAPID Technology Now Installed in More Than 500 Stroke Centers
News | Neuro Imaging | August 27, 2018
iSchemaView announced that more than 575 stroke centers in 22 countries have selected the RAPID advanced imaging...
Overlay Init