Tag: Neuro

Music May Be an Effective Guide For Understanding Human Brain Activity

NSF grant supports research to develop new models to better understand the brain

TROY, N.Y. — When Sergio Pequito thinks about the brain, he visualizes a piano. The keys represent different parts of the brain, and the pressure applied by the pianist’s fingers represents the outside stimuli that promote brain functions. 

Just as notes and harmonies can be mapped onto sheet music, Pequito, an assistant professor of industrial and systems engineering at Rensselaer Polytechnic Institute, is looking to transcribe the brain’s complex dynamics into new data models that can help researchers better understand how the brain and human cognition work. This composition effort, of sorts, is being supported by a new grant from the National Science Foundation

“We have showed that, by thinking like this, there was a lot of activity in the brain that we were able to mimic and capture,” Pequito said. “We believe that we can use the math and models we have developed to capture intrinsic features that justify how the brain behaves over space and time.” 

Pequito’s team, which includes a collaborator from the University of Southern California, will use publicly available brain signal data from the National Institutes of Health to improve the models they have built. The data has been collected using functional magnetic resonance imaging (fMRI) technology, which tracks blood and oxygen flow as they increase in active parts of the brain. 

Pequito and his team are trying to provide insight into how a healthy brain functions, as well as how one with a neurological disease may behave. Continuing this analogy, Pequito explained that just as a pianist who hits the wrong key may create a dissonant noise, the models developed by his research team will show when something is a bit off in the brain’s activity. 

Industrial and systems engineers develop tools to analyze how complex systems interact. Pequito believes that this type of approach to humanity’s long-standing questions about the brain can provide new understanding about the relationships between functions like attention, learning, memory, decision-making, and language. These insights may prove useful in improving current technology by reverse-engineering the brain, which is one of the National Academy of Engineering’s Grand Challenges for Engineering

“We have all sorts of tools that we, as industrial engineers, can use,” Pequito said. “Now, we are working to improve them so we can provide new insights for the neuroscience and medical community.”

New Alzheimer’s risk gene discovered

Photo by Aaron Andrew Ang

A new paper in the Journal of Neuropathology & Experimental Neurology finds a gene that may help explain a large part of the genetic risk for developing Alzheimer disease.

Late-onset Alzheimer disease, the most common form of the illness, is a devastating neurological condition with aspects of heritable risk that are incompletely understood. Unfortunately, the complexity of the human genome and shortcomings of earlier research are limiting factors, so that some genetic phenomena were not surveyed completely in prior studies. For example, there are many incompletely mapped genomic regions, and areas with repetitive sequences, that could not be studied previously.

Although Alzheimer’s is known to be largely heritable, a substantial proportion of the actual genetic risk for the disease has remained unexplained, despite extensive studies. This knowledge gap is known to researchers are the “missing (or hidden) heritability” problem. For example, while heritability explained 79% of late-onset Alzheimer disease risk in a Swedish twin study, common risk variants identified by pervious genetic studies explained only 20% to 50% of late-onset Alzheimer disease. In other words, a relatively large amount of genetic influence on late-onset Alzheimer disease risk was not explained by prior genetic studies.

Recent advances in sequencing technologies have enabled more comprehensive studies. Such developments allow for more precise and accurate identification of genetic material than was available in earlier gene variant studies.

In the present study, researchers analyzed Alzheimer’s Disease Sequencing Project data derived from over 10,000 people (research volunteers who agreed to have their genetic data evaluated in combination with their disease status), with the goal of identifying genetic variation associated with late-onset Alzheimer disease.

Preliminary results found evidence of late-onset Alzheimer disease -linked genetic variation within a segment of a gene called Mucin 6. Although the underlying mechanisms are mostly still unknown, researchers here believe that it’s possible to draw credible and testable hypotheses based on these results. For example, the genetic variant that was associated with Alzheimer’s disease risk may implicate a biochemical pathway in the brain that then represents a potential therapeutic target, a topic for future studies.

Corresponding authors were Yuriko Katsumata and Peter Nelson, both from the University of Kentucky. Dr. Nelson said of this study, “Our findings were made in a group of patients that is relatively small for a genetics study–some recent studies included hundreds of thousands of research subjects! That small sample size means two things: first, we should exercise caution and we need to make sure the phenomenon can be replicated in other groups; and second, it implies that there is a very large effect size–the genetic variation is strongly associated with the disease.”

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The paper, “Alzheimer Disease Pathology-Associated Polymorphism in a Complex Variable Number of Tandem Repeat Region Within the MUC6 Gene, Near the AP2A2 Gene,” is available to the public on November 21, at one minute after midnight EST.

Autistic Adolescents Want to Learn to Drive

Photo by Alex Jumper

Specialized driving instructors stress life skill development, parent-supervised practice, and individualized training to enhance learning and independence

Autistic adolescents need the support of their parents or guardians to prioritize independence so that they are prepared for learning to drive, according to a study of specialized driving instructors who have worked specifically with young autistic drivers. These findings were compiled by researchers at Children’s Hospital of Philadelphia (CHOP) and recently published in the journal Autism in Adulthood.

Driving instructors also emphasized the need to develop and refine best practices to guide assessment and delivery of highly individualized instruction for autistic adolescents. 

The study was conducted by a multidisciplinary team of researchers from CHOP’s Center for Injury Research and Prevention, Center for Autism Research, and Division of Emergency Medicine, as well as the University of Pennsylvania School of Nursing and the Virginia Tech Transportation Institute (VTTI), as part of a five-year study aimed at understanding mobility issues for autistic adolescents funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the National Institutes of Health (NIH). This is the first paper published as part of the study.

“Through our interviews with specialized driving instructors, we learned they believe parents are a critical partner in preparing for and undertaking independent driving,” said Rachel K. Myers, PhD, lead author of the study and scientist at the Center for Injury Research and Prevention at Children’s Hospital of Philadelphia (CHOP). “Instructors recommend that parents help their children develop independent life skills, including the use of alternative forms of transportation such as bicycling or mass transit, and to practice pre-driving skills, such as navigation, before undertaking on-road driving lessons.”

Driving instructors are an important resource for families, especially for those with autistic adolescents learning to drive. However, because not much is known about the specific experience of teaching autistic adolescents how to drive, this limits the ability to provide adolescents and families with proper guidance preparing for the learning-to-drive process. To help bridge this gap, researchers conducted in-depth interviews with specialized driving instructors who had experience working with autistic adolescents and young adults. This is the first study to examine the process and experience of driving instructors who provide behind-the-wheel training specifically for this population.

The study revealed a set of common themes that underscored the importance of parents of autistic adolescents in preparation for the learning-to-drive process, with driving instructors viewing parents as essential partners in supporting their efforts in teaching driving skills and promoting independence. Participating instructors said parents can support and prioritize independence by encouraging their autistic adolescents to develop life skills, such as mowing the lawn, cooking, and taking public transportation, before learning to drive.

Although the driving instructors identified a need to develop and refine best practices for assessment and instruction, they recognized that specific approaches must be tailored to meet the unique needs of each autistic adolescent driver, reflecting the spectrum that affects each adolescent differently. Other suggestions from the instructors involved in this study included using of state-level vocational rehabilitation services to provide financial support for instruction, identifying and promoting prerequisite life skills prior to undertaking driving, parent-supervised driving instruction in partnership with professional driving instruction, and tailoring instruction to address the particular needs of learner drivers.

“What these specialized driving instructors told us about the disconnect between driving and other life skills was surprising,” said Benjamin E. Yerys, PhD, study author and psychologist at the Center for Autism Research at Children’s Hospital of Philadelphia. “Some parents may not let their autistic adolescents use a stovetop oven, but are asking if their teens are ready to drive. Whether or not their children decide to drive, parents should encourage greater independence by encouraging them to get around on their own. Traveling independently by driving or other modes of transportation is key to continuing their education, working, and staying connected with friends and family.”

Obtaining a driver’s license is a major milestone in the transition to adulthood. This milestone increases the independence and mobility of adolescents, which can potentially lead to improved access to educational, occupational training, social, and community engagement opportunities. According to previous CHOP research, nearly one-third of autistic adolescents obtain a driver’s license by the time they are 21 years old, which may improve their ability to transition into independent adulthood.

Resources for families to help their teens with ASD transition to adulthood are available at The Center for Autism Research at CHOP and TeenDriverSource.org.

This work was supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development at the National Institutes of Health awards R01HD079398 and R01HD096221.

Myers et al, “Teaching Autistic Adolescents and Young Adults to Drive: Perspectives of Specialized Driving Instructors.” Autism in Adulthood, online May 22, 2019. doi.org/10.1089/aut.2018.0054.

About Children’s Hospital of Philadelphia: Children’s Hospital of Philadelphia was founded in 1855 as the nation’s first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals, and pioneering major research initiatives, Children’s Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country. In addition, its unique family-centered care and public service programs have brought the 564-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit http://www.chop.edu