WHY?WHY?
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Number 38 | Winter 2013 | Vanderbilt University
WHY?Vanderbilt Kennedy Center Special Issue
This questionfrequently arisesfrom families, educa-tors, and communitymembers who eagerlyawait answers thatwill improve theirlives or the lives ofthose they care about.
Discovery begins with ideas born of adeep knowledge of the research ofpredecessors and colleagues. Sudden insightsdo happen, but typically only after ideasferment, after bouncing them about withcolleagues, students, clinicians, families, inseminars, journal clubs, clinics, rounds, orover coffee. Vanderbilt and the VKC offersuperb settings for forming ideas,collaborating in interdisciplinary teams, andusing cutting-edge research facilities. After honing ideas, they must be tested tojustify larger federal or other investments. Atthis point, seed monies and Hobbs DiscoveryGrants become critically important! Withpreliminary findings in hand, scientists pour
their passion into grants to the NationalInstitutes of Health (NIH), National ScienceFoundation, and other federal or philan-thropic agencies. Writing and submitting agrant, getting reviews, resubmitting a revision,succeeding at funding is often a 2-year process. Once funded, researchers deal with studylogistics. They obtain approval by theInstitutional Review Board, hire the best staffand students, recruit research participants ordevelop cell cultures or animal models.Problems are solved daily in the nitty-gritty ofcollecting and analyzing data. Finally, findingscome in, but even the most exhilarating,groundbreaking findings must be checkedand re-examined. Only then do scientistsprepare their findings in manuscriptssubmitted to well-respected scientific journalsfor peer review. This process can take months,and it is sometimes a year or more until thearticle appears electronically or in print.Research participants, too, deserve to knowwhat’s been learned. We became scientists because we lovediscovery, yet we also teach courses, mentor
students, serve on committees, andadminister departments, centers, clinics, andprograms. We review the studies of otherscientists, serve on federal committees andreview panels, and contribute to our field. All is in the service of science—but at a costof time away from our labs. Then, life and politics happen! Beyondexperiencing life events we all share (illparents, children with school difficulties), we are impacted by politics. As I write, on thefirst day of our nation’s sequester, we awaitnews from the NIH and other federalagencies about how they will cut budgets forthe research we have painstakingly developed. Now more than ever, please transformyour impatience for research answers intoactions to help us on the road to discovery.Donate to a Hobbs Discovery Grant Award,participate in a study, fund a studentscholarship, or let your politicalrepresentatives know how important researchon developmental disabilities is for yourfamily. Discovery requires all of us workingtogether.
DIRECTOR’S MESSAGE: WHY DOES RESEARCH TAKE SO LONG?
Elisabeth Dykens
T his Discovery Special Issue addresses “Why?” Why is discovery needed in the field of intellectual and developmental disabilities? Why dopersons with and without disabilities contribute to the field? Why do scientists and students choose their areas of work? Why do we
blend research, service, training, and public policy? By answering such questions, we aim to illuminate the challenging pathway from ideasto practices and how families, researchers, clinicians, students, and trainees walk this pathway together.
Gen
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Intellectual disability that “runs in families”
Characterized by “fragile” piece of X chromosome
Diagnosticcytogenetic techniques developed
Sherman Paradox “skips generation” (unaffected carrier g fully affected son)
• Caused by expanding repeat in FMR1 gene• PCR screen/ diagnosis developed
• Some females (vs. males) with full mutation mildly affected• mGluR pathways underlie many FXS characteristics
Une
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FXS & autism linked • In older FXS persons, FXTAS gene leads to characteristics of Parkinson, Alzhei- mer, Charcot-Marie-Tooth syndromes• Older gene male carriers at high risk of developing FXTAS• Cerebellum atypical development related to FXS & autism phenotypes but different regions contribute to each phenotype
Inte
rven
tions
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• FXS males have cogni- tive, linguistic, & adaptive strengths & weaknesses• Older vs. younger males show more severe delays• FXS females at risk for schizoaffective & affective illnesses
• FXS male IQs decrease over time• IQ decrease may relate to methylation
• In FXS young children, low receptive language may be marker for autism symptoms• Autistic behaviors in FXS girls associated with poorer developmental outcomes• Cf. FXS alone, children with FXS & autism have more difficulty with imitation
• At equated cognitive levels, social reciprocity similar in persons with FXS vs. autism• Parents of FXS children have higher rates of rigid personality
1940 1960 1970 1980 1990 2000 2010
• Calming techniques useful • Visual approaches (rebus symbols) for reading-math
• mGluR5 negative allosteric modulator AFQ056 may improve aberrant behavior in adults with FXS who have full methylation of FMR1• Arbaclofen may improve social function & behavior
This timeline illustrates the lengthy, complexprocess of research in developmental disabili-ties. Although FXS was recognized in 1943 asan intellectual disability that “ran in families,” it took another 26 years to identify the geneticcause and another 10 years to develop diagnostic techniques. Fifty years later, thegenetic complexity continues to be unraveled.
Not until the 1980s, 40 years later, did researchers characterize the behavioral complexity in males vs. females, carriers vs. affected offspring, with insights continuingtoday. Behavioral interventions were developed 50 years later; 70 years later, pharmacologicalinterventions are emerging.
In the course of research, unexpected discoveries emerge, such as the way that previously thought “unaffected” carrier malesare prone to Parkinson and other conditions.These advances lead to new directions, notonly for the disorder being studied but alsofor other disorders and health conditions inthe general population.
Progress on FXS has been made by many researchers over 70 years and continues today,with effective interventions still being sought—an example of discovery as a collaborative andcumulative process.
FRAGILE X SYNDROME (FXS) DISCOVERY TIMELINE
DISCOVERY | Winter 2013 3
T he Rock Stars of Science(Rock S.O.S.) national
campaign featureddramatic photos ofscientists with celebrities.Initiated by the GeoffreyBeene Foundation, thegoal was to raiseawareness that science,science education, andscience funding should be a national priority. In a Rock S.O.S. video,Anthony Fauci, M.D.,director of the NationalInstitute of Allergy andInfectious Diseases,described science as “a career of makingcontributions to society…. Society would benefitgreatly if more peoplewould go into science.” The VanderbiltKennedy Centercelebrates the 210 facultyscientists from 26disciplines who workdaily to understanddevelopment anddevelopmental disabilitiesand to improve the lives of persons withdevelopmental disabilitiesand their families. Eachmentors students who are the future of ournation’s science. Here wehighlight a few. EveryVKC scientist is a Rock Star of Intellectualand DevelopmentalDisabilities Science!
WHY VKC SCIENTISTS ROCK!
Shari Barkin, M.D.PediatricsPEDIATRIC OBESITY INTERVENTION AND PREVENTION
Ana Carneiro, Ph.D.PharmacologyMONOAMINE DYSREGULATION IN AUTISM,ADHD, AND OCD
Roger Colbran, Ph.D.Molecular Physiology &BiophysicsCELL AND SYNAPTIC SIGNAL-ING DURING TYPICAL ANDATYPICAL DEVELOPMENT
Kevin Erreger, Ph.D.Molecular Physiology &BiophysicsDOPAMINE TRANSPORTERAND LEARNING, MEMORY,AND ADDICTION
Kevin Ess, Ph.D., M.D.NeurologyCELLULAR MECHANISMS OF TUBEROUS SCLEROSIS COM-PLEX, SEIZURES, AND AUTISM
Joshua Gamse, Ph.D.Biological SciencesSCHIZOPHRENIA/XLMRGENES AND BRAIN ASYM-METRY USING ZEBRAFISH
Judy Garber, Ph.D.PsychologyPREVENTION AND TREAT-MENT OF EMOTIONAL DISORDERS IN CHILDRENAND ADOLESCENTS
Isabel Gauthier, Ph.D.PsychologyFACE AND OBJECT RECOGNITION IN AUTISM
Suzanne Goldman, Ph.D.Neurology, Sleep DivisionSLEEP DISORDERS IN AUTISMAND IN ANGELMAN ANDWILLIAMS SYNDROMES
Elizabeth Hammock, Ph.D.PediatricsGENES AND NEURAL CIRCUITS IN SOCIAL/EMOTIONAL DEVELOPMENT
Sasha Key, Ph.D.Hearing & Speech SciencesBRAIN FUNCTIONING ANDCOGNITION IN GENETIC SYNDROMES AND AUTISM
Bruce McCandliss, Ph.D.PsychologyBRAIN DIFFERENCES ANDBRAIN CHANGES RELATED TOLEARNING SUCCESS IN READ-ING, MATH, AND ATTENTION
Karoly Mirnics, M.D., Ph.D.PsychiatryEFFECTS OF ENVIRONMENTON GENE EXPRESSION INAUTISM
Paul Newhouse, M.D.PsychiatryCOGNITIVE IMPAIRMENT INOLDER ADULTS WITH DOWNSYNDROME
Nilanjan Sarkar, Ph.D. Mechanical EngineeringROBOTICS AND VIRTUAL REALITY FOR AUTISM INTERVENTIONS
Julie Lounds Taylor, Ph.D. PediatricsYOUTH WITH AUTISM AND TRANSITION TO ADULTHOOD
PATHWAYWHY PERSONS WITH DISABILITIES AND FAMILY MEMBERS ARE PARTNERS
Roxanne KennerlyParent, Advocate
Being involved with the VKC has been lifechanging, for my sons and myself. We haveall taken part in studies. With each, wegained more knowledge, a new skill, ormade contributions. Language studies for Ian have provided cutting-edge interventions.Liam has taken part in sibling research andSibSaturdays. I also feel satisfaction knowingthat we are helping others.
John DonovanSibling and Advocate
Through TABS [Tennessee Adult Brothers andSisters], I’ve met other siblings with similarexperiences. TABS also introduced me toother VKC programs and to organizations suchas The Arc, Sibling Leadership Network, andmany more. TABS has helped me become abetter brother and has given me theopportunity to help others.
Karina ScaliCollege Student, Volunteer, Advocate
I always felt that I was born into this worldwith Williams syndrome for a reason—to helpin any way I can and to create awareness.When my mom found the ACM Lifting LivesMusic Camp, I couldn’t wait to go. I lovecountry music, and I wanted to help withresearch on Williams syndrome. The countrystars give their time to work with us. Theymake me feel valued and respected, and theyshine a light on our abilities.
Juan José and Ana CardonaParents
We are so thankful to be part of research.When our daughter started JEEP [JointAttention, Enhanced Milieu Teaching, andExpanding Play], she was not talking, orplaying. This project made a huge impact onher life and so ours as well. After a fewmonths, she started saying some words andplaying. We were so amazed of theimprovement she had.
Tammy ViceSongwriter, Parent, Advocate
Each of us has a role to play in life for whichwe are uniquely made. It has been sweet forme to help create songs for SENSE Theatre,but my favorite part is seeing what developsbehind the scenes. Social growth happenswhen the kids begin to understand theimportance of supporting each other. Andhearing my daughter Morgan say, “I’m in theshow!” and knowing that it’s true.
Megan HartAdvocate
Self-advocacy is an important part of my life. Ihave been able to obtain education, pursue acareer, and live a meaningful life based on mydecisions and persistence. It is a disservicewhen the voices of others overpower theneeds, desires, and goals that individuals withdisabilities have for themselves. This is whyTennessee Allies in Self-Advocacy (TASA) is soimportant.
It is reassuring to know some-body or something is there justin case life gets the best ofsome of us sometimes. Justknowing this has helped metoday and for this I am thankful.
—Caller to Tennessee DisabilityPathfinder Helpline
4 Winter 2013 | DISCOVERY
(1) Understanding Genetic SyndromesElisabeth Dykens, Ph.D. (Psychology,Psychiatry, Pediatrics) My father was apsychiatrist, and I grew up accustomed tobeing with people with disabilities. Duringmy graduate training, I worked directlywith children with genetic syndromes andautism. These experiences started me on thepath to looking at genetic syndromes as awindow for understanding connectionsamong genes, brain, and behavior and waysto optimize interventions. We look forstrengths to develop as well as difficulties toremediate, and for ways to promote well-being.
(2) Promoting Language DevelopmentPaul Yoder, Ph.D. (Special Education)As a sophomore volunteer in a preschool forchildren with language impairments, I wasfascinated by these bright children who haddifficulty communicating. Doingdevelopmental disabilities researchcombines my love of the scientific method,my desire to be a positive force in the livesof children with communication disabilities,and my passion for learning. Our lab worksto understand the match needed between
language and communication therapymethods and the strengths and weaknessesthat different children bring to therapy.
(3) Treating Sleep DisordersBeth Malow, M.D., M.S. (Neurology,Pediatrics) As a sleep researcher and parentof sons on the autism spectrum, I realizedthat identifying and treating disordered sleepin autism, Down syndrome, and otherdevelopmental disorders could make a hugedifference in the lives of children and families.My team focuses on improving methods forstudying and treating sleep disorders. Asdirector of the Vanderbilt Autism TreatmentNetwork site, we collaborate with the otherATN sites to improve medical care.
(4) Improving Autism Diagnosis andTreatment • Zachary Warren, Ph.D.(Pediatrics, Psychiatry, SpecialEducation) My clinical, research, andtraining interests revolve around improvingsystems of care for individuals with autismand their families, especially improving earlyidentification and intervention.Unfortunately, the process of developinginitial concerns, discussing concerns with
providers, obtaining accurate diagnosis, andtranslating this information into effectivetreatment remains a complex, distressful onefor most families. Families often must waitlong periods of time to find out answers toquestions they are desperate to know about.In my opinion, this process can and shouldbe dramatically improved. I spent most of my graduate traininglearning about the development of veryyoung children who had experienced seriouslife stressors. This focus on early social andemotional development was matched withopportunities to work with young childrenwith autism during my fellowship. Sincethen, I have worked with young familiesconcerned that their child may have autism.It is a challenging and powerful experienceto try to provide families with answers. I am working on projects that studyinfants at high risk for autism in hopes ofdeveloping methods for earliest detection,which early behavioral interventionprograms work best for specific children, as well as training programs for buildingsystem capacity for early accurate diagnosisand effective treatment for families in theirown backyards.
WHY SCIENTISTS STUDY BEHAVIOR CHANGE
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(1) Investigating Related GeneDisorders • Sarika Peters, Ph.D.(Pediatrics) I study two related single genedisorders, Rett Syndrome, which primarilyaffects girls, and MECP2 duplicationsyndrome, a similar syndrome that affectsboys. My role is to better define what clinicalconcerns “look like” in these syndromes, inorder to design more targeted interventionsand supports to help improve quality of life.We also seek out non-invasive approaches(e.g., saliva, psychophysiology) for linkingunderlying biology to these behaviors. Myinteractions with families inspire my work.
(2) Exploring Neurodevelopment andNeurodegeneration • Aaron Bowman,Ph.D. (Neurology and Pediatrics) I amfascinated by the connections betweenneurodevelopment and neurodegeneration.My research focuses on degenerative processesaffecting the basal ganglia, a brain structurenecessary to control movement. We use bothbasic research models as well as new methodsthat convert human skin cells intopersonalized models of neurological diseaseand environmental health. By learning howgenes and environment interact and influence
the development and maintenance of brainfunction, we hope to mitigate environmentalrisk factors of disorders and improve long-term health.
(3) Studying Cognitive ImpairmentTricia Thornton-Wells, Ph.D. (MolecularPhysiology & Biophysics) I have longbeen fascinated with brain disorders, but myfamily history of Alzheimer disease (AD) hasinfluenced my study of cognitive impairment.Why do some family members develop ADand others do not? What happens in thebrain 10 to 20 years before a person showssigns of dementia? What can we do to preventor postpone onset? Over half of persons withDown syndrome develop dementia by age 50.By studying AD in Down syndrome as well asin persons with typical neurodevelopment, weaim to advance neuroimaging, geneticprofiling, and therapeutic targets.
(4-5) Finding Pathways to NewTreatments • Jeremy Veenstra-VanderWeele, M.D. (Psychiatry,Pediatrics, and Pharmacology)Myresearch focuses primarily on genetic mousemodels of autism susceptibility, with the goal
of understanding the changes in the brainthat lead to altered social communication andrepetitive behavior in autism spectrumdisorder (ASD). In parallel, our researchgroup is testing new treatments based uponpublished findings in genetic mouse modelsof autism, including potential treatments inindividuals with fragile X syndrome and inindividuals with ASD without a known cause. I grew up knowing that the son of a closefamily friend had autism. I came toempathize with this family’s experience. This primed me for working in the lab of Dr. Ed Cook, a child psychiatrist launching agenetics lab, who encouraged his students alsoto see patients. As a result of these experiencesand my own clinical work as a childpsychiatrist, I find myself pulled tounderstand why social communication thatfeels so natural to some can be so unnaturalfor others. Seeing children who seem stuck in repetitive patterns of behavior makes mewonder what in the brain is causing thispersistent behavioral “hiccup.” Mouse modelsof autism susceptibility offer a path tounderstanding how brain development andfunction are altered, with the hope that thispath will lead to new treatments.
WHY SCIENTISTS STUDY NEURODEVELOPMENTAL DISORDERS
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(1) Unraveling the Mysteries of ReadingLaurie Cutting, Ph.D. (SpecialEducation, Psychology, Radiology &Radiological Sciences, Pediatrics) When I worked in the classroom, one youngboy had all the resources one could imaginebut could not learn to read. From then on, I wanted to understand what was happeningin the brain when children were experiencingreading difficulties. In my lab, we’re trying tounravel the mysteries of how peoplecomprehend well and what happens whenthey don’t. We focus on which elements aremost important, e.g., vocabulary,understanding grammar, structures of text,type of text, and how these relate to differentbrain systems.
(2) Connecting Preschool and LiteracyDavid K. Dickinson, Ph.D. (Teaching &Learning) I’m seeking to understand featuresof preschool classrooms that foster languageand literacy development and to describe theinterplay between language and print-basedknowledge. I’m especially interested inlanguage development, because manychildren who struggle with reading lack theacademic language skills required for the laterelementary grades. I am developing anintervention in which teachers are coached inmethods of teaching vocabulary throughbook reading and guiding children in book-connected play.
(3) Improving Lives of Youth withSignificant Disabilities • Erik Carter,Ph.D. (Special Education) Young peoplewith significant disabilities have wonderfulstrengths, aspirations, and friendships toshare. Yet far too many people never have theopportunity to know these essential membersof their communities. My research focuses onidentifying ways that schools, workplaces,neighborhoods, and congregations mightwelcome and support people with disabilitiesand their families to participate more fully incommunity life. A recurring theme is thatschools and communities that commit toinclusion find they are strengthened.
(4) Matching Instruction to IndividualLearner Needs • Doug Fuchs, Ph.D.,and Lynn Fuchs, Ph.D. (SpecialEducation) We develop assessment andinstructional methods to increase academicachievement of students with learningdisabilities (reading and math), as well as ofhigh-, average-, and low-achieving studentswithout disabilities. To test the efficacy oftheseinstructionalmethods, weconduct
large-scale, school-based randomized controltrials. We work closely with hundreds ofteachers and administrators in school systemsin Tennessee and in other states. We alsodevelop “differentiated” instruction (e.g.,small group tutoring procedures) for childrenchronically unresponsive to the core readingand math instructional programs. In thisregard, we are exploring how childcharacteristics moderate the efficacy of variousinstructional methods. Our goal is tounderstand how to match instruction toindividual learner needs. Our collaborationwith researchers in the VKCPsychophysiology Lab and the VanderbiltInstitute of Imaging Science has broadenedour understanding of learning disabilities inimportant ways. Each of us began our careers as generaleducation classroom teachers, where westruggled to address the needs ofstudents with learning disabilities.This motivated us to work hardover the years to provide generaland special education teacherswith methods that can helpthem address the needs ofthese students moreeffectively.
WHY SCIENTISTS STUDY EDUCATIONAL CHANGE
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PATHWAYWHY SCIENTISTS STUDY MENTAL HEALTH
(1) Understanding Brain DevelopmentRandy Blakely, Ph.D. (Pharmacologyand Psychiatry) To figure out how geneticand environmental factors interact to supporttypical brain development, scientists mustunderstand how the brain works across manylevels. I study neurotransmitter transporters,proteins involved in transmitting electricalsignals through the brain. Transporterproteins are targets for therapeutic drugs, aswell as drugs of abuse. We use ourunderstanding of these proteins to developanimal models of autism, ADHD, anddepression. We keep our eye on how ourfindings could lead to new therapies.
(2) Identifying the Neurobiology ofTemperament • Jennifer Blackford,Ph.D. (Psychiatry) Individual differencesin temperament—how we think, feel, andact—can either confer risk or provideprotection from psychiatric disorders likeanxiety and depression. My lab studies theneurobiological basis of these individualdifferences, using modern neurosciencemethods such as neuroimaging and genetics.Our goal is to determine how differences ingenetic variability and brain alterations may
confer risk or protection. Understanding thelinks between neurobiology and psychiatricdisorders can inspire the development ofnovel preventions and interventions in high-risk individuals.
(3) Coping with Stress • BruceCompas, Ph.D. (Psychology andPediatrics) My research involves observingthe effects of stress on physical health andpsychopathology, and processes of copingand self-regulation in response to stress andadversity in children, adolescents, and adults.Out of this comes the development ofinterventions to enhance the ways thatindividuals and families cope with stress. Mycurrent work is focused on the psychologicaland biological processes of stress on children,adolescents, and families coping with cancer,chronic pain, or depression.
(4-5) Understanding Cognition andSocial Function • Sohee Park, Ph.D.,(Psychology and Psychiatry) As a childgrowing up in Seoul, I planned to be ananthropologist because I was fascinated byhow seemingly unfathomable surface culturaldifferences could be bridged inside. After a
detour into physics and four countries later, Iam still trying to solve the puzzle of the ‘other’but in the context of severe mental illness. My lab focuses on understanding theneural bases of schizophrenia, bipolardisorder, and related conditions, whilealways being mindful of the subjectiveexperiences of the people whose lives aredisrupted by psychosis. We believe thatdisturbed sensory and perceptual processingin the brain cascades into anomalouscognitive and social functioning in theseconditions, and that training the brain toprocess incoming information moreefficiently could lead to improvements incognition and outcome. Such interventionsare more effective if they begin early, forexample, during adolescence, because this isthe period during which the behavioralsigns of psychosis emerge. Our goal for the next decade is todevelop noninvasive and effectiveinterventions that are firmly grounded inpsychology and neuroscience. To reach thatgoal, we are collaborating with other VKCinvestigators, including Bruce Compas,Nilanjan Sarkar, Tricia Thornton-Wells, andAdam Anderson.
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Connecting With Public Policy Makers •Elise McMillan, J.D., VKC UCEDD Co-Director Why do we work to connectresearch, training, and service models todevelopmental disabilities public policy? Wehear this question over and over again aboutconnecting evidence-based practices withwork in our schools and communities.The VKC University Center for Excellenceoffers a wonderful opportunity to make thoseconnections. One of our charges is to informpolicy makers about best practices. We do that on the local level throughparticipation in activities like the Mayor'sAdvisory Council on Exceptional Education,at the state level through projects likeTennesseeWorks and the EmploymentSystems Change Grant, and at the federal
level as we take part in national disabilityorganizations. This happens through testimony, sharedarticles, and professional development in areas
of autism, Down syndrome, and othergenetic syndromes. We are a vehicle forsharing research findings and recommendedpractices with public policy makers at thelocal, state, and national levels. When the Tennessee Legislature wasdeveloping policies about insurance coveragefor autism treatment, they turned to theVKC. When expertise is needed to conductstatewide needs assessments, VKC UCEDDfaculty and trainees are there, using researchtools like REDCap developed at Vanderbilt. With the support of university studentsand faculty, we have collected family storiesand shared with public policy makers, so theywill understand how disabilities affect thecitizens they represent. And the work continues.
SENSE Theatre—A Unique Autism“Lab” • Blythe Corbett, Ph.D.(Psychiatry), SENSE Theatre Founderand Director Most people think of theatre asa home for creative actors who were magicallyborn for the stage. I think of theatre as anengaging environment in which to teachsocial communication. SENSE TheatreCamp, an intervention for children and youthwith autism, has three components: peers,play, and performance. The typicallydeveloping peers are young actorsconceptualized as developing “experts” onsocial communication, flexible thinking, andempathy–all areas of challenge in autism.With supervision, they engage the SENSEcampers using theatre games, improvisation,and play rehearsal, which culminates inpublic performances.
Most of our SENSE campers are evaluatedbefore and after the camp to identify changesin functioning. The research allows us to testthe intervention, refine it, and eventually todetermine the best responders. Since our program is peer-mediated, wetrain the typically developing youth. We teachcamp counselors who are the next generationof psychologists, educators, and scientists.Whether working on the stage with ourcampers or behind the scenes collecting data,students experience applied research. SENSE Theatre is among the more uniquelab experiences students may have and one ofthe most profound for understanding theextraordinary gifts and challenges of autism.
Prader-WilliSyndrome—Piecingthe Big Picture •Elizabeth Roof, M.A.,Senior ResearchSpecialist Although I trained and worked as a clinician, in 1995, I became researchcoordinator for a multi-year study of Prader-Willi syndrome (PWS). After a few shortmonths, I was hooked. The people whoenrolled came for 3 days. I learned to listen,
to read body and vocal cues, and to anticipateproblems. Their parents accompanied usthroughout the 20 assorted physical andpsychological assessments. I heard their storiesof the struggles and joys of living with a childwith special needs. I could fully listen to what families neededwith some ability and resources to make adifference. The more data we collected, themore I could see the big picture: whenbehavior problems emerged, what periodswere critical for intervention, when helpingwith IEP/vocational and residentialplacements made the biggest difference inbehavior and learning. Now in research led byElisabeth Dykens, we are focusing on
behavior and psychiatricissues.Over the years, we have
trained students. Some havegone on to study PWS intheir own labs. Others havestudied how PWS may berelated to autism and otherdevelopmental disorders.We have a trusting
relationship with families, which allows us tocollect amazing data that can truly changelives. I wanted to make a difference. I get todo it every day.
WHY INTEGRATE SERVICES, RESEARCH, TRAINING, AND PUBLIC POLICY
PATHWAYWHY GRADUATE STUDENTS AND POSTDOCS ROCK!
T he Rock Stars of Science (Rock S.O.S.)national campaign (see p. 3) encouraged
youth to pursue careers in science. As aEunice Kennedy Shriver Intellectual andDevelopmental Disabilities ResearchCenter, the VKC plays a leadership role intraining predoctoral and postdoctoralinvestigators in intellectual anddevelopmental disabilities (IDD) research.Below we highlight a few. All ourpredoctoral students and postdoctoralfellows are the Future Rock Stars of IDDScience!
(1) Courtney Wright, Doctoral Studentin Special Education, Kaiser KidTalkProjects Coming from speech pathology, I knew about development and assessment,but not much about how to help youngchildren and their families. Now I havelearned a number of evidence-basedpractices for teaching a variety of skills toyoung children with disabilities. I feelconfident within my clinical work and myability to include and teach familiesstrategies to use in their everyday lives. I lookforward to passing these newly acquired skillson to future practitioners.
(2) Qiuyun Fan, Doctoral Student inBiomedical Engineering, Cutting LabI study the neurocorrelates of reading abilityin the brain using magnetic resonanceimaging. I am developing new imaging andanalysis techniques to study how neuraltissues are organized in the brain, and howbrain regions with distinct functionscollaborate to underpin complex cognitivebehavior. At the VKC, I have uniqueopportunities to take advantage of thisplatform where engineers, psychologists,pediatricians, educators, clinicians, and others
brainstorm ideas, so thatinterdisciplinary questions
can be addressed andthe frontiers of sciencepushed forward.
(3) Marc Mergy,Doctoral Student in NeuroscienceGraduate Program,Blakely Lab I choseneuroscience researchbecause the brain andmany brain disordersremain an elusive "black box." There isplenty left to learn! My own work focuseson a new mouse modelof ADHD that I haveused to further ourunderstanding of themolecular mechanismsunderlying this disorder.It's a great feeling toknow that my work hasdeveloped a useful tool
for future research.
(Above) Christopher Muller, DoctoralStudent in Neuroscience GraduateProgram, Veenstra-VanderWeele LabEarlier, I worked in a human geneticslaboratory involved in collecting DNAsamples from families with a history ofautism. Although I enjoyed it, I wasfrustrated that I could not do more forfamilies. I searched for neurosciencegraduate programs with strength intranslational autism research, which led meto Vanderbilt, where I am doing research ina lab developing and characterizing novelanimal models of autism. If my work cansomehow someday help a family affected byautism, it will be worth the struggle.
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The Vanderbilt LEND is part of anational network of LeadershipEducation in NeurodevelopmentalDisabilities (LEND) programs. Their goal isto improve the health of infants, children,and adolescents with neurodevelopmentaland related disabilities through leadershiptraining. The Vanderbilt LEND preparesgraduate and postgraduate students in 13 health-related fields, and providesspecialized training in autism and pediatricaudiology. The VKC University Center forExcellence in Developmental Disabilities(UCEDD), also part of a national network,trains university students, practicingprofessionals and direct care providers,individuals with disabilities and familymembers, disability advocates and policymakers. Below we highlight a few LEND andUCEDD trainees. Collectively, VKCLEND and UCEDD trainees are futureeducators, researchers, clinicians, serviceproviders, and advocates.
(1) Cong Van Tran, 2011-12 TRIADand LEND Psychology Trainee The
VKC has rich resources—experts, seminars,training, tools, tests, facilities—thatfacilitated my learning. Most important wasdeveloping professional and personalrelationships with psychologists and autismand disability specialists. Now I’m doingdisability training in my home country ofViet Nam.
(2) Kelsey Bush, 2012-13 UCEDDCognitive Studies and Human &Organization Development Trainee I knew from a young age that I wanted towork with individuals with intellectual anddevelopmental disabilities. I’ve learned thateven small acts can have huge ripple effects.I have had amazing opportunities workingin the Prader-Willi syndrome project and inVKC Communications. These experiencesshowed me different ways in which I couldcontribute to the field.
(3) Hilary Davis, 2011-12 LENDPediatric Audiology Trainee Last week, Ihad a 4-year-old light up with excitementand high-five me once he got his newhearing aid—he was hearing things he hadnever heard before! I work in schools,
teaching about hearing loss and how toimprove classroom settings. These momentsremind me that I am passionate about kidsand their success.
(4) Matthew Brock, 2012-2013UCEDD Special Education TraineeThere is an enormous gap betweenevidence-based practices and the reality ofday-to-day special education practice. I getexcited every time I am able to help ateacher or paraprofessional use a newintervention strategy effectively, and thenmeasure (and celebrate with them) thedifference that it makes for a student with adisability.
(5) Carrie Spero, 2012-2013 LEND and UCEDD Social Work Trainee As aUCEDD trainee, I have worked with NextSteps students and others and increased myknowledge of disabilities. Through LEND,I have seen the influential power thatindividuals, teams, and communities canhave in working toward change. I feel moreconfident every day in my ability to servethe community.
WHY LEND AND UCEDD TRAINEES ROCK!
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DISCOVERY | Winter 2013 11
NON-PROFIT ORG.U.S. POSTAGE
PAIDNASHVILLE, TNPERMIT NO. 1460
VANDERBILT UNIVERSITYVanderbilt Kennedy CenterPMB 40230 Appleton PlaceNashville, TN 37203-5721
RETURN SERVICE REQUESTEDLeadership Council of Vanderbilt Kennedy Center
Mrs. Donna G. Eskind, ChairMrs. Cathy S. Brown, Past ChairMrs. Annette Eskind, Past ChairMrs. Barbara Gregg Phillips, Past Chair
Mrs. Honey AlexanderMrs. Melinda BalserMrs. Jean Ann BankerMrs. Melissa BeasleyMrs. Ann BernardMrs. Barbara T. BovenderMrs. Linda BrooksMs. Mary L. CarlsonMrs. Elizabeth Ginsberg DreifussMrs. Ann EadenMr. Glenn FunkMrs. Charlotte GaviganMrs. Bernice GordonMrs. Carol HendersonMr. Robert W. Henderson, Jr.Ms. Bethany JacksonMrs. Gail Gordon JacobsMr. Robert E. LandrethMr. and Mrs. Chris and Becky Link
Mrs. Lorie Hoppers LytleMrs. Thomas E. Nesbitt, Jr.Mrs. Pat PattenMs. Andrea SandersThe Honorable Andrew ShookhoffMrs. Shirley F. SpeyerMrs. Sue SpickardMrs. Mary Layne Van CleaveMrs. Patricia W. Wallace
Ex-Officio MembersMs. Elizabeth BoordDr. Elisabeth DykensMrs. Elise McMillanDr. Karoly MirnicsMs. Linde PflaumDr. Jan RosemergyMr. Tim Stafford
Find Us on FacebookFind us on Facebook for frequentupdates and discussions on news,events, and research going on atthe Center. tinyurl.com/vkcfacebook
Sign Up for Research NewsSubscribe to Research News @ Vanderbiltto receive weekly coverage of the latest re-search from across Vanderbilt University andMedical Center.
ACM Lifting Lives Experience at VanderbiltNashville’s music entertainment industry offers awide range of vibrant careers. Beginning March2013, a small group of young adults with intellec-tual and developmental disabilities will have aunique opportunity to experience the entertain-ment industry and the various support roles that“make the music happen.” Sweet! • This innova-tive program is a creative partnership betweenACM Lifting Lives, the charitable arm of theAcademy of Country Music, and the VKC.
Discovery is a quarterly publication of the Vanderbilt KennedyCenter designed to educate our friends and the community,from Nashville to the nation. The Center is a Eunice KennedyShriver Intellectual and Developmental Disabilities ResearchCenter funded by the Eunice Kennedy ShriverNational Institute of Child Health and Human Development, and aUniversity Center for Excellence in Developmental Disabilities(UCEDD) funded by the Administration on Intellectual andDevelopmental Disabilities (AIDD). Discovery is supportedin part by Grant No. HD 15052 from EKS NICHD,AIDD Grant #90DD0595, and LEND Training Grant No. T73MC00050 MCHB/HRSA.
kc.vanderbilt.edu(615) 322-8240 (1-866) 936-VUKC [8852]
Elisabeth Dykens, Ph.D., Kennedy Center Director; Karoly Mirnics, M.D., Ph.D., Associate Director; Jan Rosemergy, Ph.D., Deputy Director and Director of Communications; Tim Stafford, Director of Operations
UCEDD: Elisabeth Dykens, Ph.D., Co-Director; Elise McMillan, J.D., Co-Director; Evon Lee, Ph.D., Training; Robert Hodapp, Ph.D., Research; Jan Rosemergy, Ph.D., Dissemination
LEND: Tyler Reimschisel, M.D., Director; Evon Lee, Ph.D., Associate Director
TRIAD: Zachary Warren, Ph.D., Director
Discovery: Editor: Jan Rosemergy, Ph.D.; Graphic Designer: Kylie Beck; Photo Editor: Amy Pottier
Photographers: VKC: Kylie Beck, Pam Grau, & TonyMaupin; Vanderbilt:Neil Brake, Daniel Dubois, Steve Green,Joe Howell, Dana Johnson, Anne Rayner, & Susan Urmy;Other:Dr. Bill Kenner, John Donovan, Crystal Finley, GamseLab, & Kennerly Family
Art: Cover:©Russell Tate/istockphoto.com; Hexagon Abstract:©Roman Okopny/istockphoto.com; DNA: Barbara Martin
Vanderbilt University is committed to principles of Equal Opportunity and Affirmative Action. ©2013 VanderbiltKennedy Center, Vanderbilt University
Giving kc.vanderbilt.edu/giving
The ART of AUTISM showcases the artistic gifts of individuals with autism. April-July, the VKC is exhibiting work by participating artists from Tennessee and neighboring states.
CALENDAR OF EVENTS | APRIL–JULY 2013
DERRICK FREEMAN
JALYN WESTON
SARAH E. VAUGHN
SAM MOSES
Winter 2013 | DISCOVERY
APRIL 3*Developmental Disabilities Grand RoundsBig Strokes in Little People: Biology and Clinical ConsiderationsBethAnn McLaughlin**, Ph.D.Assistant Professor of NeurologyLori Jordan**, Ph.D., AssistantProfessor of Neurology. Register atkc.vanderbilt.edu/registrationWednesday 12 p.m.
APRIL 5-6Fifth Annual Tennessee Adult Brothers and Sisters (TABS) ConferenceSibling keynote speakers: (Fri) Scott Modell, Ph.D., DeputyCommissioner of Policy &Innovation, TN Dept of Intellectual & Developmental Disabilities; (Sat) Nancy Webster, President of The Arc. For adults who have asibling with a disability, siblings-in-law, cousins, professionalsinterested in sibling issues. $50 ($25students) includes meals. Registerat kc.vanderbilt.edu/registration Contact [email protected] Inn Nashville-Vanderbilt,2613 West End AvenueFriday 12-7:30 p.m.Saturday 8:30 a.m.-1:30 p.m.
APRIL 10Neuroscience GraduateProgram Seminar SeriesEpigenetics at the Interface ofGenetics and Environment in Autism Janine LaSalle, Ph.D.Professor of Medical Microbiologyand Immunology, University ofCalifornia Davis. Co-sponsorVanderbilt Brain Institute208 Light HallWednesday 4:10 p.m.
APRIL 11*Augmentative and Alternative Communication(AAC) PresentationAssistive Technology for Students With Disabilities: The Legal Ins and OutsErin Richardson, Co-Director forAdvocacy, Special EducationAdvocacy Center. Free and open to the public. Register atkc.vanderbilt.edu/registrationThursday 6:30-8 p.m.
APRIL 12*Augmentative and Alternative Communication(AAC) All-Day WorkshopAAC Assessment: Making the MatchKaren Casey, M.A., CCC-SLP$175 professionals, $50 students$125 group rate for 2 or more fromsame agency/school. Register byApril 5 at kc.vanderbilt.edu/registration. Friday 8 a.m.-3:30 p.m.
APRIL 13*SibSaturdayFor siblings 5-7 and 8-13 years whohave a brother/sister with a disabilityGames, friends, conversation$10/child, $20 max/family(assistance available). Register atkc.vanderbilt.edu/registration(required in advance) Info (615) 936-8852 [email protected] 10 a.m.-2 p.m.
APRIL 20*TRIAD Families First WorkshopsDeveloping Basic CommunicationRegister at kc.vanderbilt.edu/registration. Info (615) 322-6027 or [email protected] 9 a.m.-12 p.m.See website for Summer workshops
MAY 2-3Phonological Awareness WorkshopMelanie Schuele**, Ph.D., CCC-SLP, Associate Professor ofHearing & Speech SciencesFor general and special educationteachers, speech-languagepathologists, reading specialists.Parents welcome. 1-day $70 (.65ASHA CEUs), 2 days $120 (1.3ASHA CEUs) Register atkc.vanderbilt.edu/registration. [email protected] Flr Lecture Hall, Vanderbilt Bill Wilkerson Center, MedicalCenter East. Thursday-Friday 8:30 a.m.-4:15 p.m.
MAY 17Next Steps at Vanderbilt Open HouseInfo (615) 322-5658. Register atkc.vanderbilt.edu/registrationFriday 2-4 p.m.
MAY 30-3111th Annual Tennessee DisabilityMegaConferenceDeep Roots, Broad Branches, andStrong WingsWorld-class speakers, interactiveworkshops, educational sessions,exhibits. Info atwww.tndisabilitymegaconference.org(includes breakfast/lunch)$105 one day (Thursday or Friday)$195 for 2 days (Thursdays-Friday)Nashville Airport Marriott, 600 Marriott Dr (615-889-9300)
Unless otherwise noted,events are free and open tothe public. Events are subjectto change. Please check thewebsite calendar atkc.vanderbilt.edu or contact(615) 322-8240 or toll-free (1-866) 936-VUKC [8852].
Please keep this calendarand check the EventCalendar on the VKC website for updates. If youwish to receive eventannouncements by email,send your email address [email protected].
For disability-related training and other eventsstatewide and nationally,see the searchable PathfinderDisability Calendarwww.familyp athfinder.org.
*Event will be held in Room241 Vanderbilt KennedyCenter/One Magnolia CircleBldg (110 Magnolia Circle).
**VKC Member or Investigator
DISCOVERY | Winter 2013
CALENDAR OF EVENTS | APRIL–JULY 2013
JUNE 5Neuroscience GraduateProgram Seminar SeriesUsing Music to Change the Way theBrain Processes LanguageAniruddh D. Patel, Ph.D.Senior Fellow in TheoreticalNeurobiology, Esther J. BurnhamSenior Fellow, NeurosciencesInstitutes, LaJolla, CACo-sponsor Vanderbilt Brain InstituteRoom 1220 MRB III Lecture HallWednesday 4:10 p.m.
JUNE 14*Community Advisory Council MeetingInfo (615) 936-8852Friday 9 a.m.-2 p.m.
JUNE 25-26*Autism Diagnostic Observation Schedule (ADOS-2)Clinical TrainingTRIAD workshop for psychologists,pediatricians, behavioral specialists,and SLPs. Fee: $300. Register atkc.vanderbilt.edu/registration. [email protected],(615) 322-6533. Tuesday-Wednesday 8 a.m.-4:30 p.m.
JUNE 29*Clinical Genetics for Health Care ProfessionalsWorkshop by Vanderbilt PediatricsDevelopmental Medicine Division forhealth care professionals who arenot geneticists. $50 (includes lunch)7 CME & APA CE. Register atkc.vanderbilt.edu/registration Info [email protected],Saturday 8 a.m.-2 p.m.
JULY 30-31*School Speech-LanguagePathology Conference
Two lunch-time plenary sessionsand selection among 6 (90-minute)small group sessions (1.1 ASHACEUs) Register atkc.vanderbilt.edu/registration Info [email protected] 8:30 a.m.-3 p.m.
VKC SUMMERPROGRAMSInfo [email protected] is closed. Contact TNDisability Pathfinder for informationon summer activities.• JUNE 3-15SENSE Theatre CampGFor youth, 7-18 years of age, with and without autism spectrum disorders• JUNE 23-29ACM Lifting Lives Music CampGResidential camp for individualswith Williams syndrome (16 yrs+)• JULY 14-19Next Steps at Vanderbilt SummerInstitute. Residential collegetransition program for rising highschool juniors, seniors, andyoung adults with developmentaldisabilities up to age 24
READING CLINICSUMMER SESSION• JUNE 3-JULY 15(no sessions Wk July 4)Tutoring students through middle
school. 24 (40-minute) sessions,ranging 8 a.m.-12 noonMonday-ThursdaySpace limited. Apply early.Contact (615) 936-5118,[email protected]
ARTS AND DISABILITIESEXHIBITMonday-Friday 7:30 a.m.-5:30 p.m.Lobby VKC/One Magnolia CircleBldg. Info (615) 936-8852• APRIL THROUGH JULYART of AUTISM
AUTISM TRAININGS FORK-12 SCHOOL PERSONNELWith the Tennessee Department of Education, TRIAD offers free autism-specific workshops for school personnel, parents, and thecommunity in locations across thestate. Dates/locations TBA; seekc.vanderbilt.edu/TRIAD/events.
LEARNING ASSESSMENT CLINICMultidisciplinary academic assess-ments of students, 5-25 years, to identify learning strengths andchallenges and to recommendstrategies to improve academiclearning. Info (615) 936-5118
NEXT STEPS ATVANDERBILT
A 2-year certification postsecondaryeducation program for students with intellectual disabilities providingindividualized Programs of Study in education, social skills, andvocational training. Info (615) 322-5658 or [email protected]
TAKE PART IN RESEARCH VKC Research StudiesFor children and adults, with andwithout disabilitiesLynnette Henderson (615) 936-0448Toll-free (1-866) 936-VUKC [8852]• Research Family Partnerskc.vanderbilt.edu/rfpRegister and be notified ofresearch studies• StudyFinderkc.vanderbilt.edu/studyfinderView lists of studies, criteria, and contact information• See also VUMC Clinical Trialswww.vanderbilthealth.com/clinicaltrials
TENNESSEE DISABILITYPATHFINDER MULTI-CULTURAL OUTREACHHelpline; Web site with SearchableDatabase, Calendar, and ResourceLibrary; Print Resourceswww.familypathfinder.orgEnglish (615) 322-8529Español (615) 479-9568 Toll-free (1-800) 640-INFO [4636][email protected] of VKC UCEDD and TNCouncil on DevelopmentalDisabilities
TENNESSEE WORKSWeb hub for information related to employment of people withdisabilitiesTennesseeWorks.org(615) 936-0448
Winter 2013 | DISCOVERYDISCOVERY | Winter 2013
Next Steps at Vanderbilt Summer Institute, a postsecondary education preparatoryprogram, is accepting applications for its July 14-19 on-campus program.
