Civitan International / Simpson-Ramsey Neurodevelopment Symposium April 20, 2017 UAB Student Hill Center 1400 University Boulevard Birmingham, AL 35294 8:00 am Sign-in and Continental Breakfast 8:30 am Opening Remarks Alan Percy, M.D., Professor, Department of Pediatrics, Interim Director, Civitan International Research Center Director Rita Cowell, Ph.D., Associate Professor, Dept. Psychiatry & Behavioral Neurobiology, Associate Director of Communications and Outreach, CIRC Session I 8:45 am Adaptive Behavior Profiles in Autism and Neurodevelopmental Disorders: Implications for Functional Independence Celine A. Saulnier, Ph.D., Director of Research Operations, Marcus Autism Center Associate Professor, Division of Autism and Related Disorders 9:15 am Characterizing the Heterogeneity in Autism Spectrum Disorder using Brain Connectivity Underlying Social Cognition Melissa Thye, Graduate Student, Lifespan Developmental Psychology PhD Program 9:30 am Developmental Social Neuroscience Meets Public Health Challenge: A New System of Healthcare Delivery for Infants and Toddlers with Autism Spectrum Disorder Ami Klin, Ph.D., Director, Marcus Autism Center, Children’s Healthcare of Atlanta Georgia Research Alliance Eminent Scholar Professor & Chief, Emory 10:20 am Break Session II 10:35 am Adult Neurogenesis and Klotho Gwendalyn King, Ph.D., Assistant Professor, SPIN Director, Department of Neurobiology, UAB 11:05 am Amygdalar Expression of the microRNA miR-101a and its Target Ezh2 Contribute to Rodent Anxiety-like Behavior Josh Cohen, Neuroscience Graduate Research Assistant, M.D., Ph.D. Program 11:20 am A Theory of Cognitive Failure in Alzheimer’s Disease Paul Worley, M.D., Professor Neuroscience and Neurology, The Johns Hopkins School of Medicine 12:10 pm Lunch
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Civitan International / Simpson-Ramsey
Neurodevelopment Symposium
April 20, 2017
UAB Student Hill Center
1400 University Boulevard
Birmingham, AL 35294
8:00 am Sign-in and Continental Breakfast 8:30 am Opening Remarks Alan Percy, M.D., Professor, Department of Pediatrics,
Interim Director, Civitan International Research Center Director
Rita Cowell, Ph.D., Associate Professor, Dept. Psychiatry & Behavioral Neurobiology, Associate Director of Communications and Outreach, CIRC Session I 8:45 am Adaptive Behavior Profiles in Autism and Neurodevelopmental Disorders: Implications
for Functional Independence Celine A. Saulnier, Ph.D., Director of Research Operations, Marcus Autism Center Associate Professor, Division of Autism and Related Disorders
9:15 am Characterizing the Heterogeneity in Autism Spectrum Disorder using Brain
Connectivity Underlying Social Cognition Melissa Thye, Graduate Student, Lifespan Developmental Psychology PhD Program
9:30 am Developmental Social Neuroscience Meets Public Health Challenge: A New System of
Healthcare Delivery for Infants and Toddlers with Autism Spectrum Disorder Ami Klin, Ph.D., Director, Marcus Autism Center, Children’s Healthcare of Atlanta Georgia Research Alliance Eminent Scholar Professor & Chief, Emory
10:20 am Break Session II 10:35 am Adult Neurogenesis and Klotho
Gwendalyn King, Ph.D., Assistant Professor, SPIN Director, Department of Neurobiology, UAB
11:05 am Amygdalar Expression of the microRNA miR-101a and its Target Ezh2 Contribute to
Rodent Anxiety-like Behavior Josh Cohen, Neuroscience Graduate Research Assistant, M.D., Ph.D. Program
11:20 am A Theory of Cognitive Failure in Alzheimer’s Disease
Paul Worley, M.D., Professor Neuroscience and Neurology, The Johns Hopkins School of Medicine
12:10 pm Lunch
Session III 1:15 pm History of the Simpson-Ramsey Lectureship
Fred Biasini, Ph.D., Associate Professor, Director, Lifespan Developmental Psychology Program
1:25 pm Describing the Development, Behavior and Autism Symptom Profiles of Individuals
with Pitt-Hopkins Syndrome Kristi Guest, Ph.D., Assistant Professor, Disabilities Services Coordinator, Research Coordinator, UAB Civitan-Sparks Clinics
1:55 pm The Choice of Musical Instrument and its Effects on Auditory Working Memory and
Perception in Adolescents Abby Turnbough, Audiology Intern, Sparks Center for Development & Learning Disorders
2:10 pm Interests, Reward, and Experience in Autism: Clues on the Road to Treatment
Development and Service Delivery Jim Bodfish, Ph.D., Professor, Dept of Hearing & Speech Sciences, Psych and Neuroscience, Vanderbilt Brain Institute and Vanderbilt Kennedy Center
3:00 pm Adjourn to Poster Session 3:30- 5:30 pm Poster Session and Reception
The Edge of Chaos 4th Floor Lister Hill Library
Interests, Reward, and Experience in Autism: Clues
on the Road to Treatment Development and Service
Delivery Jim Bodfish, Ph.D. Professor, Departments of Hearing & Speech Sciences, Psychiatry, and
Neuroscience
Member, Vanderbilt Brain Institute, and Vanderbilt Kennedy Center Vanderbilt University School of Medicine
Dr. Jim Bodfish is a psychologist and is a Professor in the Departments of Hearing & Speech
Science, Psychiatry, & Neuroscience at the Vanderbilt University School of Medicine. He is a
member of the Vanderbilt Brain Institute, the Vanderbilt Bill Wilkerson Center, and the
Vanderbilt Kennedy Center. He has devoted his career exclusively to research, teaching, and
clinical activities in the field of autism and developmental disabilities. His research has focused
on the pathogenesis and treatment of autism and related developmental disabilities and has been
published in a variety of journals. His clinical work focuses on the integration of behavioral and
medical approaches for treatment-resistant cases.
Summary:
What interests people with autism and how does this influence how they choose to “spend” their
attention and time? As parents know, children with autism can spend a disproportionate amount of
time seeking out and engaging in often highly focused and primarily nonsocial patterns of
behavior and interest. They can quickly become “experts” all on their own in these very specific
things that capture their interest. When viewed from the perspective of experience-dependent
brain and behavioral development, such a focused nonsocial pattern of behavior and interests can
lead to strengths and skills but may also diminish social experience and opportunities for social
learning and development. The work in my lab is guided by the goal of arriving at a deeper
understanding of this natural pattern of behavioral disposition and development in autism. We
conduct studies designed (1) to examine brain-behavior mechanisms associated with the
development of interests in autism, and (2) to leverage this mechanistic understanding in the
development of novel approaches to intervention and services for that subset of the autism
spectrum that tend to need the most support and services – i.e. children with diminished language
development and challenging behaviors that can limit their response to conventional
interventions. Some of the questions that guide our work are: Does this pattern of development in
autism unfold as a result of a tendency to avoid social stimulation (e.g. anxiety), or a
predisposition to approach nonsocial stimulation (e.g. reward)? How early do nonsocial interests
emerge in autism? Do autism-typical patterns of interest relate to differences in activation of brain
reward circuitry and connectivity of reward circuitry with other brain networks? Can clinical
findings on interest patterns be translated to guide preclinical models in autism and to the
development of novel approaches for early intervention? In my talk, I hope to show how we’ve
tried to address these questions through a translational program of research, and to tell what we
think we’ve learned about autism along the way.
Developmental Social Neuroscience meets Public
Health Challenge: A New System of Healthcare
Delivery for Infants and Toddlers with Autism
Spectrum Disorder Ami Klin, Ph.D. Director, Marcus Autism Center, Children’s Healthcare of Atlanta;
Georgia Research Alliance Eminent Scholar Professor & Chief,
Division of Autism & Related Disorders, Department of Pediatrics,
Emory University School of Medicine; Emory Center for Translational
Social Neuroscience. Shorter affiliation: Marcus Autism Center,
Children’s Healthcare of Atlanta and Emory University School of
Medicine.
Ami Klin, Ph.D. is the Georgia Research Alliance Eminent Scholar Professor and Chief of the
Division of Autism and Developmental Disabilities at Emory University School of Medicine,
and Director of the Marcus Autism Center, Children’s Healthcare of Atlanta. He obtained his
Ph.D. from the University of London, and completed clinical and research post-doctoral
fellowships at the Yale Child Study Center. He directed the Autism Program at the Yale Child
Study Center, Yale University School of Medicine until 2010, where he was the Harris Professor
of Child Psychology & Psychiatry. The Marcus Autism Center is one of the largest centers of
clinical care in the country.
Summary:
This presentation highlights the critical role of early diagnosis and intervention in attenuating the
symptoms of autism. Data will be presented on early diagnostic indicators obtained through eye-
tracking-based behavioral assays that quantify the social disabilities in autism. The results of
these assays were used to generate "growth charts" of normative social engagement, and the
deviations from the norm were taken as early indicators of risk. These methods yielded high
sensitivity and specificity for the screening of infants. The ultimate goal of this effort is to
develop objectified and quantified tools for the detection of autism in infancy, tools that might be
deployed in primary care and pediatricians’ offices. This work will be contextualized in terms of
recent developmental social neuroscience research with toddlers with autism, which implicated
developmentally very early emerging, and evolutionarily highly conserved, mechanisms of social
adaptation that set the stage for reciprocal social interaction, which in term represent the platform
for early social brain development. These mechanisms of socialization are under stringent
genetic control, setting the scientific basis for parent-delivered, community-viable, early
treatment in which social engagement is “engineered” via daily activities, thus impacting a
child’s development during every moment of social interaction. Effective screening of infants
would be unethical without a clinical infrastructure providing access to family support and early
intervention for those screened positive. Through a collaboration with Dr. Amy Wetherby, we
are now establishing tools and procedures for the full integration of primary care physicians and
early intervention providers with the goal of establishing a new system of healthcare delivery for
infants & toddlers with autism spectrum disorders. This system deploys “Early Social
Interaction” as its modality of parent-delivered treatment.
Adaptive Behavior Profiles in Autism and
Neurodevelopmental Disorders: Implications for
Functional Independence
Celine Saulnier, Ph.D. Director of Research Operations
Marcus Autism Center, Children’s Healthcare of Atlanta
Associate Professor, Division of Autism and Related Disorders
Department of Pediatrics, Emory University School of Medicine
Dr. Saulnier obtained her doctorate in Clinical Psychology from the University of Connecticut,
after which she completed a postdoctoral fellowship at the Yale Child Study Center under the
mentorship of Dr. Ami Klin. After her postdoc, Dr. Saulnier joined the Yale faculty, where she
became both the Clinical Director and the Training Director for the Autism Program, managing
and supervising multidisciplinary diagnostic evaluations on individuals with autism spectrum
and related disorders from infancy through young adulthood.
At the Marcus Autism Center, Dr. Saulnier oversees all activities related to the diagnostic
characterization of individuals participating in clinical research, and she is the Director of the
Clinical Assessment Core for the NIH Autism Center of Excellence grant. Her research focuses
on profiles of adaptive behavior in autism spectrum disorders, particularly on the discrepancy
between cognitive ability and the application of functional skills to daily contexts and routines.
Dr. Saulnier is an avid lecturer and educator on ASD, having conducted hundreds of workshops
and seminars nationwide over the past decade. She is also is co-author of the book, Essentials of
Autism Spectrum Disorders Evaluation and Assessment. She is also an Associated Assistant
Professor in the Department of Psychology at Emory College of Arts and Sciences
Summary:
Adaptive behavior is generally defined as the independent performance of daily activities that are
required for personal and social self-sufficiency. Deficits in adaptive behavior are, by definition,
criteria for Intellectual Disability. Yet in autism, adaptive delays tend to be above and beyond
what would be expected based on cognitive impairments, alone. This gap between cognition and
adaptive behavior appears to widen with age and impedes functional independence into
adulthood. This presentation will outline these profiles of adaptive behavior and discuss the
importance of assessing for and teaching adaptive skills from initial diagnosis throughout the
lifespan.
A Theory of Cognitive Failure in Alzheimer’s
Disease
Paul Worley, M.D. Professor Neuroscience and Neurology
The Johns Hopkins School of Medicine
Paul Worley’s laboratory examines the molecular basis of learning and memory. In particular,
his laboratory has cloned a set of immediate early genes (IEGs) that are rapidly transcribed in
neurons involved in information processing, and that are essential for long term memory. IEG
proteins can directly modify synapses and provide insight into cellular mechanisms that support
synapse-specific plasticity. For example, Narp is secreted and induces excitatory synapse
formation. Homer catalyzes conformational coupling of multi-protein machines involved in
calcium signaling. Rheb regulates mTor (target of rapamycin) and protein translation. Arc
induces the formation of endosomes that function in trafficking of glutamate receptors. Thus,
rapid de novo transcription provides novel insights into the cellular and neural network basis of
behavioral plasticity.
Adult Neurogenesis and Klotho
Gwendalyn King, Ph.D. Assistant Professor
SPIN Director
Department of Neurobiology
University of Alabama at Birmingham
Dr. King received her Bachelor’s Degree in Molecular Biology from Purdue University. She
received Master and Ph.D. degrees from the University of Michigan. She was a postdoctoral
fellow under Drs. Maria Castro and Pedro Lowenstein at Cedars-Sinai Medical Center/UCLA
where she was awarded an F32 fellowship from NINDS. Her work focused on
neuroimmunology and the development of novel glioma therapeutics using adenoviral
vectors. She worked with Carmela Abraham at Boston University School of Medicine as an
Instructor to understand the role of the anti-aging gene Klotho in the brain. At BUSM she was
awarded a K99/R00 from NIA. She joined the faculty at UAB in 2011.
Summary:
Only about 4% of genes expressed by the brain show changes in expression as people age.
Among these is the gene responsible for making the klotho protein. When klotho is absent from
mice it causes lifespan to be shortened and for cognitive impairment to develop extremely
rapidly. When mice have more klotho they live longer and show cognitive enhancement in
behavioral tasks that utilize the hippocampus. While it may seem logical to see opposite effects
when a single protein is up or down-regulated, it occurs very rarely. Making klotho even more
interesting, a common polymorphism in the gene that causes more klotho to be circulating in the
blood stream correlates with increased executive function in humans across lifespan. We are
interested in determining how klotho functions within to explain such dramatic affects on
cognitive function. Our recent data show premature aging of the hippocampal neurogenic niche
in klotho-deficient mice as evidenced by reduced numbers of neural stem cells, decreased
proliferation, and impaired maturation of immature neurons. Klotho-deficient neurospheres show
reduced proliferation and size that is rescued by supplementation of shed klotho protein.
Conversely, 6 month old klotho overexpressing mice exhibit increased numbers of neural stem
cells, increased proliferation, and more immature neurons with enhanced dendritic arborization.
In both models, the cellular phenotypes correlate with behavioral measures of dentate gyrus
function with klotho overexpression protecting against normal age-related loss of object location
memory. Together these data show that klotho is a novel regulator of postnatal neurogenesis
affecting neural stem cell proliferation and maturation sufficient to impact cognitive function.
Describing the Development, Behavior and
Autism Symptom Profiles of Individuals with
Pitt-Hopkins Syndromes
Kristi Guest, Ph.D. Assistant Professor
Department of Psychology
University of Alabama at Birmingham
Dr. Kristi Carter Guest is the Disabilities Services Coordinator for the UAB Early Head Start
Program, Research Coordinator for the UAB Civitan-Sparks Clinics and the UAB Leadership
Education in Neurodevelopmental and Related Disabilities (LEND) and is an Assistant Professor
in the Department of Psychology. She serves on the Executive Board for the Central Alabama
Early Intervention Council and is on the planning committee for the statewide Alabama Early
Intervention Conference.
Dr. Guest received clinical training at the UAB Civitan-Sparks Clinics performing hundreds of
developmental assessments with children who were at-risk for developmental delay. Currently
she participates in the interdisciplinary diagnostic observations of children suspected of having
Autism Spectrum Disorders in the UAB Civitan-Sparks ASD Clinic. With the UAB Early Head
Start Program, Dr. Guest provides clinical services for children with disabilities and their
families to initiate and facilitate early intervention and school based services. With the UAB
Early Head Start program, she coordinates all of the developmental screenings for children in the
program.
Summary:
Available clinical studies describe individuals with Pitt-Hopkins Syndrome (PTHS) as exhibiting
some of the core symptoms of Autism Spectrum Disorder (ASD), including difficulties in verbal
and nonverbal communication, sensory sensitivity, and social interaction difficulties. Significant
developmental delays, including motor delays and intellectual disability are also reported in
individuals with PTHS. The current study focused on obtaining demographic information as well
as standardized caregiver-report measures of development, behavior, and ASD symptoms to
clarify and characterize the presence of ASD symptoms in this population, with particular
emphasis on the social, communication, adaptive, developmental, and repetitive behaviors of
individuals with PTHS. Information regarding ASD symptoms and patterns of behavior within
genetic syndromes such as PTHS may be helpful in characterizing a broader ASD phenotype.
Further, a better understanding of social communication and behavioral difficulties in individuals
with known genetic differences and developmental delays may help guide more informed