A New Way to Measure Autism in Boys

Approach suggests brain Imaging can enhance diagnosis and improve treatment.

Researchers have developed a new method to map and track the function of brain circuits affected by autism spectrum disorder (ASD) in boys using brain imaging, a technique that will provide doctors with a tool that measures the progress of treatments in individual patients.

Doctors for the first time would be able to quantify how that brain circuit is working in their patients and assess the effectiveness of a treatment.

The research is outlined in a paper, “Quantified Social Perception Circuit Activity as a Neurobiological Marker of Autism Spectrum Disorder,” published Wednesday in JAMA Psychiatry. The paper focuses on the use of biomarkers, measurable indicators of a biological condition, to measure the function of the social perception circuit of the brain.

“This is significant because biomarkers give us a ‘why’ for understanding autism in boys that we haven’t had before,” said Kevin Pelphrey, a co-author of the paper, who is the Carbonell Family Professor in Autism and Neurodevelopmental Disorders and director of the Autism and Neurodevelopmental Disorders Institute at the George Washington University. “We can now use functional biomarkers to identify what treatments will be effective for individual cases and measure progress.”

Researchers analyzed a series of 164 images from each of 114 individuals and discovered the brain scans of the social perception circuits indicated ASD only in boys.

This new research has the potential to improve treatment for ASD by measuring changes in the social perception brain circuit in response to different treatments. The researchers found the brain scan data can be an effective indicator of function of the circuit in males, both younger children and older patients alike.

The research is particularly relevant for ASD patients who are difficult to diagnose and treat by providing a more definitive diagnosis and in developing a treatment program when it is not clear whether behavioral, drug or a combination of those treatments would be most effective.

“The behavioral symptoms of ASD are so complex and varied it is difficult to determine whether a new treatment is effective, especially within a realistic time frame,” said Malin Björnsdotter, assistant professor at the University of Gothenburg and lead author of the paper. “Brain function markers may provide the specific and objective measures required to bridge this gap.”

Widespread use of brain scans?

In addition to helping to identify the most effective ASD treatment for an individual, this research provides evidence that brain imaging is an important intervention tool.

Currently, functional MRI, the type of brain scan used in this study, is not a standard part of ASD treatment, as there is not enough evidence linking the scan to effective treatments. The Autism and Neurodevelopmental Disorders Institute at GW aims to make significant contributions toward the establishment of evidence-based therapies for ASD.

“This kind of imaging can help us answer the question, ‘On day one of treatment, will this child benefit from a 16-week behavioral intervention?’” Dr. Pelphrey said. “Answering that question will help parents save time and money on diagnosis and treatments.”

This image shows brain scans.

Researchers analyzed a series of 164 images from each of 114 individuals and discovered the brain scans of the social perception circuits indicated ASD only in boys. Credit: The researchers/George Washington University.

Following the study, Dr. Pelphrey and his colleagues will test their findings at the next level: studying a larger pool of people with autism and other neurological disorders in collaboration with Children’s National Medical Center to see if the scan can successfully distinguish ASD from other disorders and track treatment progress.

The authors emphasized that this research is still in its early phase, pointing out that doctors’ offices and most hospitals do not have the specialized imaging equipment necessary to carry out the brain scans used by the team involved in this study.

“To really help patients we need to develop inexpensive, easy-to-use techniques that can be applied in any group, including infants and individuals with severe behavioral problems,” said Dr. Björnsdotter. “This study is a first step toward that goal.”

While this method currently only works for boys with autism, the researchers are leading a large-scale, nationwide study of girls with autism to identify equivalent techniques that will work for them. The group expects to have the initial results from that study later this year.

About this autism research

Source: George Washington University
Image Source: The image is credited to the researchers/George Washington University.
Original Research: Abstract for “Evaluation of Quantified Social Perception Circuit Activity as a Neurobiological Marker of Autism Spectrum Disorder” by Malin Björnsdotter, MSc, PhD; Nancy Wang; Kevin Pelphrey; and Martha D. Kaiser in JAMA Psychiatry. Published online April 20 2016 doi:10.1001/jamapsychiatry.2016.0219


Abstract

Evaluation of Quantified Social Perception Circuit Activity as a Neurobiological Marker of Autism Spectrum Disorder

Importance Autism spectrum disorder (ASD) is marked by social disability and is associated with dysfunction in brain circuits supporting social cue perception. The degree to which neural functioning reflects individual-level behavioral phenotype is unclear, slowing the search for functional neuroimaging biomarkers of ASD.

Objective To examine whether quantified neural function in social perception circuits may serve as an individual-level marker of ASD in children and adolescents.

Design, Setting, and Participants The cohort study was conducted at the Yale Child Study Center and involved children and adolescents diagnosed as having ASD and typically developing participants. Participants included a discovery cohort and a larger replication cohort. Individual-level social perception circuit functioning was assessed as functional magnetic resonance imaging brain responses to point-light displays of coherent vs scrambled human motion.

Main Outcomes and Measures Outcome measures included performance of quantified brain responses in affected male and female participants in terms of area under the receiver operating characteristic curve (AUC), sensitivity and specificity, and correlations between brain responses and social behavior.

Results Of the 39 participants in the discovery cohort aged 4 to 17 years, 22 had ASD and 30 were boys. Of the 75 participants in the replication cohort aged 7 to 20 years, 37 had ASD and 52 were boys. A relative reduction in social perception circuit responses was identified in discovery cohort boys with ASD at an AUC of 0.75 (95% CI, 0.52-0.89; P = .01); however, typically developing girls and girls with ASD could not be distinguished (P = .54). The results were confirmed in the replication cohort, where brain responses were identified in boys with ASD at an AUC of 0.79 (95% CI, 0.64-0.91; P < .001) and failed to distinguish affected and unaffected girls (P = .82). Across both cohorts, boys were identified at an AUC of 0.77 (95% CI, 0.64-0.86) with corresponding sensitivity and specificity of 76% each. Additionally, brain responses were associated with social behavior in boys but not in girls.Conclusions and Relevance Quantified social perception circuit activity is a promising individual-level candidate neural marker of the male ASD behavioral phenotype. Our findings highlight the need to better understand effects of sex on social perception processing in relation to ASD phenotype manifestations.

“Evaluation of Quantified Social Perception Circuit Activity as a Neurobiological Marker of Autism Spectrum Disorder” by Malin Björnsdotter, MSc, PhD; Nancy Wang; Kevin Pelphrey; and Martha D. Kaiser in JAMA Psychiatry. Published online April 20 2016 doi:10.1001/jamapsychiatry.2016.0219

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