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Image of hands, bodies, and instruments around a face: Autism is a complex developmental disability.
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SYMPOSIA - 2009-2011

In 1998, the NLM Family Foundation began hosting a series of symposia in which invited professionals from various backgrounds and areas of expertise would convene to present their current work or research and discuss novel ideas for the advancement of autism research and treatment. Participating professionals have varied from neuroimaging researchers, neurologists, and pediatricians to special educators, psychiatrists, and speech and language pathologists.

The purpose of these symposia is to develop networks of people who can contribute to achieving the aims of the Foundation. NLM Family Foundation symposia are meant to stimulate the creative exchange of ideas that will enrich the field of autism research, education and service delivery. Importantly, they introduce influential thinkers in a format conducive to the development of productive relationships that will lead to positive changes in the lives of individuals with autism and their families.

The following list details the presentation topics, researchers, and primary focus of NLM Family Foundation symposia in 2009. Please refer to the links on the left to read more about symposia from previous years.


Systems Biology of Autism: The Case for the Cerebellum- December 2011
The Nancy Lurie Marks Family Foundation, Wellesley, MA

A great deal of research into the biological basis of autism spectrum disorders has revealed that impairment of basic processes at the synaptic level may be the deepest cause of this neurodevelopmental disorder. Many of the proteins implicated by genetics studies are found at the synapse and have well-established roles in mediating synaptic plasticity. A hard problem for neuroscientists is to explain how faulty processes at the synapse can account for the social and communication difficulties experienced by persons with autism. Clearly, therapeutic breakthroughs for autism would be forthcoming if a specific neuronal cell type in a specific neurological circuit were shown to be the primary site of atypical plasticity, analogous to the discovery that weakened dopamine-producing cells in the substantia nigra can result in Parkinson’s Disease. There have been suggestions over the years that Purkinje cells, the primary integrators, comparators, and output cells of the olivocerebellar circuit might function differently in autism. The purpose of this meeting was to explore the idea that damage to the cerebellum during development, or ongoing errors in synaptic regulation, might explain the social and communication deficits seen in autism.

Matthew P. Anderson, M.D. Ph.D., Harvard Medical School, Beth Israel Deaconess Medical Center

Ray Kelleher, MD, Ph.D., Harvard Medical School, Massachusetts General Hospital

Tal Kenet, Ph.D., Harvard Medical School, Massachusetts General Hospital

Determining how Purkinje-cell-specific manipulations lead to behavioral deficits consistent with autism
Wade Regehr, Ph.D., Harvard Medical School

Autistic-like behavior in Purkinje cell Tsc1 mutants
Mustafa Sahin, MD, Ph.D., Children's Hospital Boston

Dennis P. Wall, Ph.D., Harvard Medical School

Developmental diaschisis and cerebellar contributions to autism spectrum disorder
Sam S-H Wang, Ph.D., Princeton University

Andrew W. Zimmerman, MD, Lurie Family Autism Center, Massachusetts General Hospital


Stem Cells and the Future of Autism Research and Treatment- April 2011
The Nancy Lurie Marks Family Foundation, Wellesley, MA

Induced pluripotent stem cells (iPSCs) have the extraordinary property of being able to differentiate into any somatic cell type, including cells of the neural lineage. This has rendered possible the preparation of ‘diseases in a petri dish’ wherein iPSCs from individuals with specific neurological conditions can be cultured and studied with electrophysiological and molecular biological techniques. These assays can be combined with combinatorial chemical libraries, as well as cDNA and RNAi libraries, to screen for agents that target disease-relevant pathways, thus opening new windows for therapeutic discovery.

Ultimately, stem cells could be used to repair cellular assemblies in regions of the brain thought to be affected in autism, such as Purkinje cells in the cerebellum. In view of the surprising genetic and phenotypic heterogeneity in autism-related disorders, the ability to carry out these assays in a patient-specific genetic background will remove one serious confound in the search for mechanisms and remediation.

Matthew Anderson, MD, Ph.D., Beth Israel Deaconess Medical Center

Michael E. Coulter

Daniel Ebert, M.D., Massachusetts General Hospital

Modeling Pathogenesis & Treatment of Autism Spectrum Disorders Using Patient-Specific Stem Cells: Fragile X Syndrome
Stephen J. Haggarty, Ph.D., Massachusetts General Hospital

Dissecting the Mechanisms of Cellular Reprogramming
Konrad Hochedlinger, Ph.D., Massachusetts General Hospital

Ray Kelleher, M.D., Ph.D., Massachusetts General Hospital

Mustafa Sahin, MD, Ph.D., Children's Hospital Boston

An Autism Stem Cell Biorepository: Gaining Insights from Induced Pluripotent Stem Cell Technology Philip H. Schwartz, Ph.D., Children's Hospital of Orange County

Induced Conditional Self-renewing Progenitor (ICSP) Cells
Richard L. Sidman, M.D., Beth Israel Deaconess Medical Center

Timothy Yu, MD, Ph.D., Lurie Family Autism Center, Massachusetts General Hospital

Andrew W. Zimmerman, MD, Lurie Family Autism Center, Massachusetts General Hospital


Environmental Factors and Epigenetics - November 2009

The Nancy Lurie Marks Family Foundation, Wellesley , MA

Autism is usually described in terms of behaviors, such as abnormal and repetitive movements, difficulties in producing speech, and other manifestations of impaired executive planning and motor control. These behaviors are thought to reflect underlying disconnections in the nervous system.

The causes of autism are obscure. Twin studies suggest a genetic component, thought to occur in two varieties, hereditary and ‘sporadic’ (arising in the germ line), but not with 100% phenotypic concordance for monozygous twins. Autism appears to be on the increase and affects males much commonly more than females. It is highly heterogeneous with seemingly large differences in language ability, immunological robustness, motor planning, gastro-intestinal dysfunction, and artistic and social expressiveness. Fundamental developmental processes, perhaps impacted at different points of time and in different cell-types, appear to have gone awry, leaving not a diseased or degenerative state, but possibly a new kind of organizational condition that needs to be addressed with unique biomedical approaches.

There is growing awareness that even small amounts of organic compounds, used in packaging, pest control, cosmetics, and hundreds of other every day applications, might affect neural and reproductive development. However, even if true, establishing any or several of these as proximal causes seems, at best, remote, especially on a case-by-case basis  with a highly diverse population. The explosive growth in our knowledge of chromatin remodeling and its central importance for understanding cell fate determination, as well as the development of high density platforms for mapping epigenetic marks, opens up the possibility of using cohorts of identical twins with autism to correlate differences in these marks with finer phenotypic variation.

Matthew Anderson, MD, Ph.D., Beth Israel Deaconess Medical Center

Epigenomic Approaches to the Interplay of Genetics and Epigenetics

Andrew Chess, MD, Massachusetts General Hospital

Katie Clapham

Michael Coulter

Al Galaburda, MD, Beth Israel Deaconess Medical Center

Matthew Goodwin, Ph.D., MIT Media Lab

Novel Designs to Study the Impact of Environmental Exposures on Pregnancy: Case Example of Bisphenol A
Russ Hauser, Sc.D., MD, Harvard School of Public Health

Martha Herbert, MD, Ph.D., Massachusetts General Hospital

Tal Kenet, Ph.D., Massachusetts General Hospital

Minding the Ca2+ store:  Gene x Environment Interactions Relevant to Autism and Related Neurodevelopmental Disorders

Isaac N. Pessah, Ph.D., UC Davis/MIND Institute

T.C. Theoharides, Ph.D., M.D., Tufts University School of Medicine

Simple Biosensors to Detect Endocrine Active Compounds: Application to ASD Targets
David Wood, Ph.D., Ohio State University



NIRS as a Tool for Early Clinical Diagnosis of Autism- September 2009
The Nancy Lurie Marks Family Foundation, Wellesley , MA

Autism is usually described in terms of behaviors, such as abnormal and repetitive movements, difficulties in producing speech, and other manifestations of impaired executive planning and motor control. These behaviors are thought to reflect underlying disconnections in the nervous system. Magnetoencephalography (MEG), functional neuromaging (fMRI), positron emission tomography (PET), electroencephalography (EEG), and diffusion tensor imaging (DTI) are all being used in complementary ways to establish an understanding of autism in terms of functionally associated regions of the brain. Patterns of dynamic communication across anatomically distinct brain structures can be studied using event-triggered experimental protocols in fixed laboratory settings. There remains, however, the important challenge of detecting the early emergence of abnormal connectivity and asynchrony in the brains of at-risk infants, preferably with non-invasive, fast, and relatively inexpensive scanning procedures.

The near-infrared portion of the electromagnetic spectrum, coupled with the well-known absorption differences between oxygenated and deoxygenated hemoglobin can, in principle, allow detection of regions of active brain activity analogous to BOLD measurements with magnetic resonance spectroscopy. In fact, the absorptive properties of infrared light are ideal for somewhat deeper tissue imaging provided that scattering can be source-modeled. The development of fast multi-channel electro-optic processors and source-detector pairs deployed on skull-caps has enabled the emergence of near-infrared spectroscopy (NIRS), sometimes referred to as diffuse optical tomography (DOT). This technology could prove useful in the early detection of temporal processing or functional connectivity problems in human infants, as well as impaired blood circulation that might limit neurodevelopment.

This Boston Club addressed the progress that has been made in applying NIRS to the problem of autism. Is there a unique diagnostic niche that could be occupied by this relatively inexpensive technology? What hurdles must be surmounted before these instruments can be used to obtain replicable data over time and in comparison with other investigators? Will it be possible one day to measure absolute, rather than relative, levels of blood flow, opening up the possibility of monitoring responses to pharmaceutical or behavioral interventions?

Sharon Fox, MD, Children’s Hospital Boston

Martha Herbert, MD, Ph.D., Massachusetts General Hospital

Katherine Martien, MD, Massachusetts General Hospital

Near- Infrared Spectroscopy and High Density EEG to Study Neural Mechanisms of Cognitive Dysfunction in Autism
Andrei Medvedev, Ph.D., Georgetown University

The Social Brain and its Development in Autism
Kevin Pelphrey, Ph.D., Yale University

Developing and Validating Near- Infrared Neuroimaging for Mobile Clinical Applications
Gary Strangman, Ph.D., Massachusetts General Hospital

Neuroimaging of Autism: Connectivity and Cognition
John Van Meter, Ph.D., Georgetown University

Jennifer Wagner, Ph.D., Children’s Hospital Boston


Communications Initiative Annual Meeting- May 2009

The Nancy Lurie Marks Family Foundation, Wellesley , MA

A central theme of the NLM Family Foundation's funding programs has been the need to develop strategies to remediate the communication impairment that is such a prominent feature of autism spectrum disorders.  Towards that end, approximately two years ago the Foundation published a Request for Proposals seeking grants pertinent to this subject.  Over 140 applications were submitted in response to this RFP and, after peer review, 11 applications were selected for funding.  For this meeting, the Foundation invited all of the investigators who received funding to present the results of their work thus far. The purpose was for Foundation Trustees and staff to learn about the progress that grantees have made during the course of their funding from the NLM Family Foundation and to encourage a lively discussion about these research grants amongst all Communications Initiative grant recipients.

Auditory Processing Abilities in Autistic Individuals: Temporal Resolution Versus Temporal Processing Efficiency.

Jose Alcantara, Ph.D., University of Cambridge

Lucia Bigozzi, University of Florence

Lois Black, Ph.D., Oregon Health & Science University

ERP-based Communication Device for Nonverbal Children on the Autism Spectrum
Deniz Erdogmus, Ph.D., Northeastern University

Mirror Neuron System and Written Communication through FC in People: A Cortical Profile of Excitability and Inhibition by Means of Transcranial Magnetic Stimulation
Leonardo Emberti Gialloreti, University of Rome, Tor Vergata Medical School

Impaired Speech and Motor Planning in Autism: The Role of the Left IFG
Hill Goldsmith, Ph.D., University of Wisconsin , Madison

Matthew Goodwin, Ph.D., MIT Media Lab

Receptive Knowledge in Individuals with Autism: Eye Movements, Pupillary Dilation, and Event-Related Potentials
Barry Gordon, MD, Ph.D., The Johns Hopkins Medical Institutions

Frank Guenther, Ph.D., Boston University

Computerized Games to Promote Verbal Expression in Individuals with Autism Spectrum Disorder

Mohammed Ehsan Hoque , MS , MIT Media Lab


Sensory Stimulation
Michael Leon, Ph.D., University of California , Irvine

Insights on Developing Socially Assistive Robotics as a Tool for Socialization of Children with Autism Spectrum Disorders
Maja J. Mataric, Ph.D., University of Southern California

Maria G. Palmieri, University of Rome, Tor Vergata

Developing and Testing an Intonation-based Intervention to Improve Communication Skills in Autistic Children
Gottfried Schlaug, MD, Ph.D., Beth Israel Deaconess Medical Center

Facilitated Communication in Boys with Autism: An Analysis of Linguistic and Nonverbal Interactions
Alda Scopesi, Centro Studi Sulla Comunicazione Facilitata

In Your Own Voice: Personal AAC Voices for Minimally Verbal Children with Autism Spectrum Disorder
Jan van Santen, Ph.D., Oregon Health & Science University

Mirella Zanobini, Centro Studi Sulla Comunicazione Facilitata



Efficacy of Psychosocial Treatments for Autism - April 2009

The Nancy Lurie Marks Family Foundation, Wellesley , MA

A central premise of developmental psychology is that early experiences can influence the genetically primed cascade of events involved in the maturation of neuronal circuits. Indeed, it is now recognized that all experiences leave their marks on the physical structure of synapses through the mediation of the biochemistry of synaptic plasticity. Autism is likely due to some interference of the normal developmental pathway of the nervous system, probably owing to a combination of genetic predispositions and environmental factors present during prenatal gestation or in the first years of life.

 

Applied Behavioral Analysis (ABA) is an early intervention for individuals diagnosed with autism that presumably targets synaptic plasticity through intensive behavioral modification with feedback control. ABA is not the only early intervention that appears to work (in some cases) for persons with autism. The Floor Time Model, developed by Dr. Stanley Greenspan, is based on providing positive behavioral feedback in naturalistic settings with the therapist modeling the movements and social encounter strategies of the person with autism as a means of engaging (in modern terms) the mirror neuron system.

 

A Boston Club held on April 27, 2009 titled "Efficacy of Psychosocial Treatments for Autism" focused on this area of inquiry. The purpose of this Boston Club was to examine other approaches to early intervention that might also work by engaging social patterning circuits in the brain. The Cornerstone Method of Reflective Network Therapy, discovered by Dr. Gilbert Kliman, requires far less time than ABA, and has proven particularly effective with children with mild to moderate autism. Their best results with children with autism have been with four times a week treatments of 15 minutes each, in a classroom setting, combined with weekly parent guidance.

 

Treatment and Education of Autistic and Communication Handicapped Children (TEACCH) is another well-regarded program model aimed at meeting the needs of autistic people by using the best available educational approaches for this population known thus far and providing the maximum level of autonomy. TEACCH emphasizes understanding the culture of autism, developing an individualized person- and family-centered plan for each client, structuring the physical environment, and using visual supports to make the sequence of daily activities predictable and individual tasks understandable.


Kira Apse , MS , The Autism Consortium

 

Deborah Flaschen 

Matthew Goodwin, Ph.D., Massachusetts Institute of Technology

 

Alexandra Harrison, MD, Harvard University

Predicting and Improving Language Outcomes in Children with Autism

Ted Hutman, Ph.D., University of California, Los Angeles

 

Vanda Marie Khadem, JD, Autism Higher Education Foundation

 

Reflective Network Therapy: in-classroom treatment for preschoolers with autism spectrum disorders

Gilbert Kliman, MD, The Children's Psychological Health Center, Inc.

 

Structured Teaching with Children and Adults

Gary Mesibov, Ph.D., University of North Carolina , Chapel Hill

 

Vicki Milstein, M.S. Ed., Brookline Public Schools

 
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