GENETIC TESTING PRACTICES OF GENETIC COUNSELORS, GENETICISTS, AND PEDIATRIC NEUROLOGISTS WITH REGARD TO CHILDHOOD-ONSET NEUROGENETIC CONDITIONS

Identifying genetic diagnoses for neurological conditions with a considerable hereditary component, such as autism spectrum disorder (ASD), intellectual disability, and epilepsy, is critical to providing proper medical management for these patients and their families. However, many patients with these conditions are not tested appropriately or receive no genetic testing at all. The current study was designed to characterize the genetic testing practices of the providers most likely to evaluate or order genetic testing for these patients: pediatric neurologists, geneticists, and genetic counselors. The study noted significant variance between the testing strategies selected by pediatric neurologists compared to those of geneticists and genetic counselors and supports the need for updated guidelines that are consistent across specialties. Pediatric neurologists report lower confidence with ordering genetic testing and a need and desire for further education regarding genetic testing. This study proposes that the continued integration of genetic counselors into pediatric neurology clinics may improve utilization of genetic testing while reducing the burden on neurologists

Identification of Clinical and Behavioral Outcomes Predictive of FTLD-TDP Pathology

Frontotemporal Lobar Dementia (FTLD) is a neurogenerative disease often misdiagnosed as Alzheimer’s Disease (AD), resulting in poor treatment outcomes (Rascovsky et al., 2011). Multi-factorial approaches are increasingly being applied to yield more accurate and earlier diagnoses. These standard clinical outcomes include MRI imaging, biomarkers, and assessments of cognitive ability. While each of these outcomes are partially predictive of FTLD diagnosis, none alone carry enough power to differentiate FTLD patients from other dementias, including AD. One notable variable is TDP-43, a DNA-binding protein involved in regulating the FTLD risk gene UNC13A, suggested as one of the more effective biomarkers for early FTLD diagnosis. While it is understood that TDP-43 serves as a good diagnostic biomarker, it is less understood what unique clinical outcomes emerge as a consequence of FTLD-TDP pathology compared to other TDP-related diagnoses. To examine best clinical predictivity, exploratory analyses will be run to investigate outcome combinations that most accurately identify TDP-43 pathology. These variables include: CSF tau concentration, level of cognitive ability, and cerebral gray matter volume. Data was extracted from the National Alzheimer’s Coordinating Center (NACC). Inclusion criterion were completeness of the following items/scores: FTD diagnosis, T1 scan (gray matter volumes), Montreal Cognitive Assessment (MoCA), CSF tau, and TDP-43 pathology. Structural equation modeling (SEM) - specifically between FTLD-TDP patients compared to FTLD patients investigated the predictiveness of these variables. Data collection is still being conducted and results will be presented and discussed in full during the oral presentation. Overall, the results are expected to shed light on what combination of clinical outcomes are most related to FTLD-TDP pathology over other FTLD cases

QUEnch assiSTed (QUEST) MRI Used as a Novel Approach to Identify Reactive Oxygen Species as a Result of Experimental TBI

Introduction: Traumatic brain injury (TBI) generates reactive oxygen species (ROS), promoting inflammatory processes and impeding TBI recovery. Within the VA population, over 70% of military personnel that sustain a TBI receive opioid-based pain relief, however, opiates may actually exacerbate post-TBI complications through its documented recruitment of oxidative and inflammatory systems. Thus, we hypothesize that TBI and opioid treatment act synergistically to worsen post-TBI oxidative stress. Methods: Mice were exposed to either TBI or sham injury and administered morphine or saline in the acute post-injury period. Afterwards, neuroimaging was conducted using a novel technique, QUEnch assiSTed (QUEST) MRI, which compares standard MRI signals across mice that acutely receive an antioxidant “quench” therapy and those receiving saline as control. Therefore, differential MRI signals between these groups are an index of ROS generation. Changes in hippocampus and cortex signals were measured, as these structures are most commonly affected by TBI. Methylene blue and α-lipoic acid were used as antioxidants in the quenching step as they halt mitochondrial ROS production and scavenge excess ROS, respectively. Results: No significant changes in ROS levels were detected as a result of TBI, opioid exposure or their combination using QUEST MRI in either the cortex or hippocampus. Conclusions and Future Directions: While QUEST imaging did not yield significant changes between experimental groups, future work will include ex-vivo biochemical ROS analyses from harvested tissues, which will provide higher resolution quantification of oxidative processes than that of QUEST MRI

All-Cause and Opioid-Related Mortality Compared between Traumatic Spinal Cord Injury and the US General Population

Individuals with spinal cord injury (SCI) are susceptible to the misuse of opioids due to the introduction of these substances for pain management. There are very few studies examining the relationship between unintentional deaths caused by opioid usage following spinal cord injury. The objective of this study was to evaluate the trend of opioid-related mortality of individuals with spinal cord injury (SCI) over the years and compare these findings to the mortality rates due to opioid misuse in the general population. In this study, we used data provided by the National Spinal Cord Injury Model Systems (NSCIMS) for SCI 1999-2016 and Centers for Disease Control and Prevention Wide-ranging Online Data for Epidemiologic Research (CDC WONDER) for the United States (US) general population. Using the codes for poisoning due opioids, we analyzed and graphed the rates of opioid-related mortality and the related percent of total deaths for SCI as compared to the US general population. The all-cause mortality rate and opioid-related mortality in individuals with SCI was significantly higher for SCI than the rate in the US general population. However, despite the higher opioid-related mortality rates in the SCI model systems sample when compared to the US general population, the percentage of total deaths due to opioid misuse among individuals with SCI was lower than its percentage of total deaths in the US general population. Our results suggest that opioid usage places individuals with SCI at a much higher risk for opioid-related mortality, and drug misuse is becoming more popular among the general population. Overall, evaluating these trends can provide insight into safer pain management strategies for SCI and highlights the need to implement better preventative measures for the risks associated with prescribing these substances

EEG Study of the Featural and Configural Components of Face Perception

Prior research using functional magnetic resonance imaging (fMRI) suggests that facial features (i.e. eyes, nose, and mouth) and their configuration (i.e. T-shaped arrangement of features) are processed in different face-specific brain regions. However, precise response time of featural and configural face processing is unknown. Featural processing may occur before configural processing, or configural processing may occur before featural processing; conversely, they may occur simultaneously. Here, using the electroencephalography (EEG), we will examine the face-specific event related potential (ERP), the N170, to analyze temporal differences between featural and configural face processing

The Helminthological Society of Washington 2013 Anniversary Award: LARRY S. ROBERTS

Dr. Roberts was born in the great state of Texas, and much of his early life is murky, but snakes are often mentioned. Larry received his Bachelor’s degree at Southern Methodist University; his Master of Science at the University of Illinois; and his Doctorate in the Department of Pathobiology at the Johns Hopkins School of Hygiene and Public Health. Larry’s doctoral research, published in Experimental Parasitology, documented the early development and crowding effect of the tapeworm, Hymenolepis diminuta, in the rat small intestine. His publication on this subject opened the door to the golden age of cestode physiology and biochemistry from the early 1960s through the 1980s. For example, he was author or coauthor of 17 different studies beginning with ‘‘Developmental Physiology of Cestodes.’’ Moreover, he had numerous other papers dealing with cestode biochemistry. In addition, Larry was awarded the American Society of Parasitologist’s Henry Baldwin Ward medal in 1971 based largely upon his early research. Larry did postdoctoral studies at McGill University and the University of Massachusetts at Amherst, and then he moved to Texas Tech University. Early in his career he worked with prominent scientists in the field, including Clark Read, Everett Schiller, Donald Fairbairn, and Ernest Bueding. In addition to his cestode work, Larry early on developed an affinity for the systematics of parasitic ergasilid copepods of freshwater fishes. He published several species descriptions and an important review paper on the genus Ergasilus, revising the genus and providing a key to the species in North America that is still consulted today. Larry Roberts is well known as the lead coauthor of the very popular parasitology textbook, Foundations of Parasitology, originally with Gerald Schmidt and now in its ninth edition with John Janovy Jr. and Steve Nadler as coauthors. Significantly, Larry is also a coauthor of three other biology textbooks, namely, Animal Diversity, Biology of Animals, and Integrated Principles of Zoology, each having several editions and translations. In addition to serving for the past two years as the president of the Helminthological Society of Washington, Larry is a past president of the Southeastern Society of Parasitologists, the Southwestern Association of Parasitologists (while a professor at Texas Tech University), and served as the seventy-fourth president of the American Society of Parasitologists. Much of Larry’s history can be gleaned from Gerry Schad’s introduction of Larry as the seventy-fourth president of the American Society of Parasitologists, published in the Journal of Parasitology volume 85 (1999). Entitled ‘‘The Cure for All Diseases,’’ this address is a must read for any scientist today as he ably debunked some odd and bizarre parasitological pseudoscience still prevalent in popular culture today

Alexithymia Symptoms Are Not Associated With Childhood Trauma or CRHR1 rs110402 Genotype

Alexithymia is associated with difficulties in emotional self-regulation, and alexithymia is specifically associated with an absence of emotional experience and cognition of emotion. Past research has indicated a potential association between alexithymia and the CRHR1 gene . Situational factors may also impact the expression of the CRHR1 gene within an individual. Berenbaum (1996) found associations between PTSD/childhood trauma and alexithymia. This study examined these associations using the Online Alexithymia Questionnaire-G2 (OAQ-G2) as well as DNA samples gathered from 657 participants at the University of Nebraska-Lincoln (72% women; 78.6% white; mean age= 20.34; standard deviation of 2.6). It was hypothesized that possessing at least one G allele of rs110402, a single nucleotide polymorphism (SNP), which has previously been associated with higher scores on the alexithymia questionnaire would result in higher scores on the alexithymia questionnaire. It was further hypothesized that when the risk allele is present, a history of childhood trauma would be association with a higher score on the alexithymia questionnaire. No association was found between any of the variables within the population. Future research into other potential biological association could lead to a better understanding of the origins of alexithymia

Concussion Competencies: A Framework for School-Based Concussion Management (flyer)

This volume grew out of many years of clinical practice, research, and program projects. It is the culmination of more than 50 years of work with kids, brains, and schools. While there is research behind the Competencies and the underlying content, the intent was to create a user-friendly manual that cut across levels of responsibility and care. Concussion Competencies was not intended to be a textbook in the traditional manner; however, the Competencies have been shown to be a useful approach to teaching this material. This volume is organized around a set of Competencies that have been shown to be useful to practitioners in the field. The 10 Compentencies fall into three main areas of information we have found to be important for effective work with students (and parents): SECTIONS 1. Biological aspects of concussion 2. Behavioral aspects of concussion 3. Programmatic considerations An important consideration is that not everyone who works with kids and concussions needs the same depth of training. With this in mind, chapters are broken by type of reader. AUDIENCE / CONSTITUENTS • Superintendents, Boards, and Administrators • Athletic Directors and Coaches • Licensed and Ancillary Health Care Providers • Teachers • Parents and Students The 10 Competencies address: • Biological Aspects of concussion management • Behavioral aspects of concussion • Programmatic considerations. This volume intends to: • Bridge the gaps between schools, community health care and families; • Focus on behavior and not medicine; • Assume that schools are a proper focus of activity, but does not assume all schools have equal resources; • Elevate the role of the student-patient and the family in the recovery process. The material is aimed at a broad range of interested parties: • School Superintendents, Boards, and Administrators • Athletic Directors and Coaches • Teachers • Licensed and Ancillary Health Care Providers • Parents and Students