KIDDRC News Fall-Winter 2015
Erik Lundquist selected as fellow of the American Association for the Advancement of Science, LJ World.
Judith Carta, The Learning Curve: Head Start Turns 50, KCPT-TV
Hinrich Staeker, From Vertigo to Tinnitus, Ear Ailments are New Focus for Drugs, New York Times
Jeff Burns, David Johnson, The Right Dose of Exercise for the Aging Brain, New York Times Well Blog
Judith Gross, KU News, Researchers help people with disabilities raise employment expectations.
Peter Smith, John Colombo, Lawrence Journal-World, Of mice and machines: Old, new technology mix in genomic research at KU Medical Center
Dale Walker, Education Week, Key to Vocabulary Gap Is Quality of Conversation, Not Dearth of Words
Matthew Mosconi, a psychologist and neuroscientist who studies autism spectrum disorders, will join the University of Kansas as an associate professor in the Clinical Child Psychology Program and associate scientist in the Life Span Institute August 18.
Mosconi was recruited from the University of Texas Southwestern after a national search as part of the University of Kansas’ Biobehavioral Approaches to Neurodevelopmental Disorders initiative. The interdisciplinary collaboration provided funds to support the development of breakthroughs in etiological mechanisms, preventive approaches and intervention methods to reduce the challenges for individuals with neurodevelopmental disorders. In addition, the position was made possible by a KU Strategic Initiative grant to the LSI’s Kansas Center for Autism Research and Training: Phase II Expansion.
Mosconi’s research is focused on understanding the development of behavioral and cognitive issues characteristic of autism spectrum disorder and identifying the brain mechanisms that cause these issues. His work also examines brain-behavior linkages in related monogenic conditions associated with autism, including Fragile X Syndrome. This work aims to determine pathophysiological mechanisms involved in different forms of autism so that biologically based tests useful for early identification can be developed and new targets can be identified to advance treatment discovery efforts.
“Dr. Mosconi’s arrival represents a clear enhancement of the university’s research strengths in autism and neurodevelopmental disabilities,” said John Colombo, Life Span Institute director. “He represents the best of the new generation of nationally-visible autism researchers, and we firmly believe that he will contribute to the tradition of high-quality intellectual and developmental disabilities research here at KU.”
Mosconi earned his masters and Ph.D. in clinical psychology from the University of North Carolina at Chapel Hill. He then completed his post-doctoral fellowship in cognitive neuroscience and neuroimaging at the University of Illinois at Chicago. He has been supported by the National Institutes of Health at each level of his academic career, and currently is leading multiple studies investigating the neurobiological bases of sensorimotor and cognitive dysfunction in autism and related disorders. In addition, Mosconi’s research focuses on subtle familial patterns of sensorimotor and cognitive disruptions that may offer insights into the genetic bases of autism spectrum disorders.
Not even Stephen Hawking uses the kind of sci-fi communication interface that neuroscientist and Scientific Director of Core B Jonathan Brumberg is developing. Hawking uses a cheek muscle to control his voice device. But Brumberg wants to give individuals with no voluntarymovement at all the ability to control a communication device via a brain-computerinterface (BCI)—with their thoughts alone. And what would set this apart from otherspeech BCIs is that it would allow an individual to speak through a speech synthesizer in real time.
BCIs are increasingly being used in scientific research and therapeutic interventions for individuals with ALS (like Hawking) as well as for those with “locked-in syndrome” due to brain stem stroke or other conditions, said Brumberg.
Brumberg is testing a prototype BCI that can decode an individual’s brain waves recordedvia a non-invasive 60-channel EEG cap into sound frequencies to control a vowel synthesizer with instantaneous auditory and visual feedback. The actual BCI features an algorithm that transforms brain waves into acoustic and visual representations of speech, according to Brumberg, whose Ph.D. is in the computational neuroscience of speech motor control. The purpose of the current project is to demonstrate the feasibility of vowel sounds as a feedback mechanism for a speech BCI.
“If we can provide a device that synthesizes speech, the person with locked-in syndrome who has intact perception perceives what they produced,” he said. “A key part of this perception-production loop is the ability of the perceptual system to tell the production system if it’s correct. And if it’s incorrect, how to correct it.”
Ultimately, said Brumberg, the project will be the basis for future BCI designs that could run on mobile devices using low-dimensional speech synthesizers for continuous production of both consonants and vowels using non-invasive EEG.
Brumberg was also appointed to the Editorial Board of Brain-Computer Interfaces this year and recently published four papers relevant to the neuroscience of language and language disorders.
Perhaps the most influential paper to come out of Theme 2 research was published by Stephen Kingsmore and his team in Science Translational Medicine (2014, 6: 265ra168, DOI: 10.1126/scitranslmed.3010076).
Here, 100 of 119 children affected by neurodevelopmental disorders (NDDs) received diagnostic whole gene sequencing (WGS) and/or whole-exome sequencing (WES) of parent-child trios, wherein the sequencing approach was guided by acuity of illness. Forty-five percent received molecular diagnoses. An accelerated sequencing modality, rapid WGS, yielded diagnoses in 73% of families with acutely ill children (11 of 15). Forty percent of families with children with nonacute NDD, followed in ambulatory care clinics (34 of 85), received diagnoses: 33 by WES and 1 by staged WES then WGS.
The cost of prior negative tests in the nonacute patients was $19,100 per family, suggesting sequencing to be cost-effective at up to $7640 per family. A change in clinical care or impression of the pathophysiology was reported in 49% of newly diagnosed families. If WES or WGS had been performed at symptom onset, genomic diagnoses may have been made 77 months earlier than occurred in this study. It is suggested that initial diagnostic evaluation of children with NDD should include trio WGS or WES, with extension of accelerated sequencing modalities to high-acuity patients.
The scientific, clinical, and ethical implications of the results of this study were so important as to elicit an extensive discussion in a piece published by science writer Sara Reardon in Nature (514.7520 (2014): 13-14).
Randolph Nudo’s Theme 3 project also continues to generate important findings with respect to neural reorganization, a topic that has clear relevance for intellectual and developmental disabilities. Of particular note are two papers in Neurorehabilitation and Neural Repair. In the first (2014, doi: 10.1177/1545968314543499), Nudo reports on a study designed to assess the effects of rehabilitative training on the temporal dynamics of behavioral and neurophysiological endpoints in a rat model of focal cortical infarct. They found that rats receiving rehabilitative training demonstrated more rapid improvement in motor performance and movement quality during the training period that persisted through the follow-up period; they concluded that postinfarct rehabilitative training rapidly improves motor performance and movement quality after an ischemic infarct in motor cortex, but that training-induced motor improvements are not reflected in spared motor maps until substantially later. This latter point suggests that early motor training after stroke can help shape the evolving poststroke neural network.
The second paper (2014, 28:433-442, doi: 10.1177/1545968313516868) describes a study whose goal was to establish the relationships between primary motor cortex measures of motor-task-related activation and a neuronal marker, N-acetylaspartate (NAA), in patients with severe to mild hemiparesis. They found that, compared with controls, patients had a greater extent of contralesional activation and a higher magnitude of activation and lower NAA in both ipsilesional and contralesional cortical outcomes. There were significant negative correlations between extent of activation and NAA in each M1 and a trend between contralesional activation and ipsilesional NAA in patients but not in controls. In summary, results suggested that greater post-stroke neuronal recruitment could be a compensatory response to lower neuronal metabolism. Thus, dual-modality imaging may be a powerful tool for providing complementary probes of post-stroke brain reorganization.
Over the past year, the KIDDRC has established a formal partnership with the KUCDD, the Kansas University Center on Developmental Disabilties, which serves as a clinical parallel to the KIDDRC and which also falls under the umbrella of the Life Span InstituteThis partnership will facilitate recruitment for KIDDRC projects that require participants with IDD and serving as an outlet for translational and outreach processes for the regional IDD community. As noted previously, the KUCDD occupies physically adjacent space on the Lawrence campus, at KUMC, and at Juniper Gardens. The director of the KUCDD is Michael Wehmeyer (a KIDDRC PI), who reports directly to Colombo as Director of the Life Span Institute. The KUCDD is required to keep detailed data on all research, clinical, and training activities involving its associates on an annual basis. During the last federal project year, faculty associated with the KUCDD conducted more than 75 extramurally funded projects focused in intellectual and developmental disabilities, resulting is 1,232 specific activities (e.g., training workshops, outreach clinics) that impacted 48,965 participants including students, professionals, family members, individuals with disabilities, policy makers, and the general public.