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Beth Israel Deaconess Medical Center , Boston , MA

Principal Investigator: Alvaro Pascual-Leone , MD , Ph.D.

Improving Language Skills in Autism Spectrum Disorder by Modulating Prefrontal Activity Noninvasively

This project focuses on improving language abilities of individuals with autism spectrum disorders (ASD) by using repetitive transcranial magnetic stimulation (rTMS). rTMS is a non-invasive way to induce a controlled amount of current in the living human brain and use it to explore the way in which brain regions interact to generate behavior. The investigators believe that language abilities of individuals with ASD are abnormal because connections between certain brain regions do not function normally early in life and development results in progressive maladaptive changes that account for symptoms of disease. These abnormal connections may relate to a dysfunction in mirror neurons, which help us understand actions of others and are critical for language acquisition. Research shows that mirror neuron function is abnormal in individuals with ASD. In humans a vast number of mirror neurons are in Broca's region, a part of the brain that is fundamental for speech and language. The investigators believe that dysfunction of mirror cells in this region leads to a faulty connectivity between Broca's region and other language areas in both halves of the brain and account for core deficits in individuals with ASD. Studies in patients with abnormal language due to a stroke affecting Broca's area (aphasia) reveal that modifying activity in the pars triangularis of the frontal operculum with rTMS improves language even after more than 10 years of aphasia. The investigators will use rTMS to change the activity in the pars triangularis in individuals with ASD with the hypothesis that it will lead to a language improvement. It is hoped that this study will provide an improved understanding of the cause of language deficits in ASD and will lead to the development of a new treatment strategy that will improve communication skills and social interactions of those with ASD.

Alvaro Pascual-Leone

The Boston Conservatory, Boston, MA


All Lost to Prayers: A Family's Struggle with Autism

The NLM Family Foundation provided support for the production of All Lost to Prayers, a two-act opera/musical theater piece which deals with the weight of autism on a family. Although the piece only loosely follows Shakespeare's plot for The Tempest, the idea of an island inhabited by isolated and alienated individuals is at the heart of both works. There will be four performances of All Lost to Prayers between April 26 - April 30, 2006 at the Boston Conservatory. The length of the performance is approximately 1 hour, 40 minutes.

The Boston Conservatory

Brandeis University , Waltham , MA

Principal Investigator: Susan Birren, Ph.D.

Education and Research in Autism and Human Developmental Disorders

Solving the mysteries of autism spectrum disorders and developing effective therapies is critically dependent upon the recruitment of new research scientists into the field. The decision of young scientists and physicians to focus their research on problems related to autism can be influenced by educating students and young scientists about the importance of the field and the exciting, interdisciplinary science taking place. The investigator proposes a new model for autism education that includes the expansion of an innovative undergraduate course on autism and related disorders, integration of undergraduates into autism-related laboratory research, and training advanced graduate students and postdoctoral fellows in autism education and research. Guest lecturers will expose students to their research and clinical work in the autism field. Students will undertake independent research projects and participate in class colloquium including poster sessions and oral presentations. A web-based manual will be prepared, including a sample syllabus, reading lists and other published and on-line resources, as well as suggestions for student involvement developed from the experience of conducting this course. The goal of this project is to increase awareness of our current understanding of autism spectrum disorders and their impact on society, and to establish an ongoing mechanism for translating that awareness into a commitment to pursue autism research. This program will provide a blueprint for other institutions interesting in expanding programs in autism education and will have a significant impact on young scientists as they make decisions about their future research careers.

Susan J. Birren, Ph.D.

Cold Spring Harbor Laboratory
A Critical Assessment of Autism Genetics
Lloyd Harbor, NY

The NLM Family Foundation is providing support for a meeting, hosted by the Banbury Center at Cold Spring Harbor Laboratory, which will focus on emerging data in autism genetics entitled, “A Critical Assessment of Autism Genetics.” Although twin and family studies have demonstrated a strong genetic etiology, it has been difficult to identify susceptibility genes for autism that are influencing a majority of patients. There is increasing optimism about identifying susceptibility genes due to larger numbers of families being assessed, consortia being formed, and the development of better phenotype assessment and family history tools. Additionally, new technologies have been developed to perform high density genetic marker studies as well as assess the whole genome for alterations not detected by traditional methods. This meeting will focus on clinical considerations, whole genome genetic studies, candidate genes and regional association studies, chromosomal abnormalities and statistical genetics. It will bring together a prestigious, international group of researchers at an opportune time to critically assess our understanding of the genetic basis of autism and future directions for research in this area.

Cold Spring Harbor Laboratory

Massachusetts Advocates for Children, Boston, MA

Establishment and Support of the Autism Special Education Legal Support Center

The goal of this project is to provide training, technical assistance, and advocacy services necessary to ensure that children with autism receive equal educational opportunities. Goals include: Providing parents with information about state-of-the-art services and programs available to meet individual needs of students with disabilities; Insuring that children with autism receive special education services necessary to reach their potential in areas impacted by their disability; Increasing public awareness and understanding of the potential and competency of individuals with autism, targeting policy makers, media, educators, service providers, as well as the general public. The Autism Special Education Legal Support Center will accomplish these goals by: providing community-based workshops for parents, educators, and medical professionals regarding legal rights and range of service options available for children with autism; providing a hotline to give legal and technical assistance to families of children with autism; training attorneys to increase representation of low-income students with autism to ensure that children receive legally mandated special education services; and providing information to the media, the legislature, and other policy makers regarding changes necessary to ensure children with autism receive services that reflect their potential.

Massachusetts Advocates for Children

Massachusetts General Hospital , Boston , MA

Principal Investigator: Martha R. Herbert, M.D., Ph.D.

Electrophysiological Studies of Gating, Timing and Connectivity in Autism

Although autism is defined by three types of behavioral impairments, recent findings in autism research are pointing toward widespread network signal coordination or connectivity problems as underlying what we see as autism - various parts of the brain do not synchronize normally. Reduced connectivity has been found using methods that are better at locating things in space than in time; for example, functional MRI can give us pictures of where the brain activates but is not useful for revealing the sequence of activation, because it cannot register changes that happen in intervals shorter than a second. Electroencephalography (EEG) on the other hand has a time resolution at the millisecond level-more than a thousand times more fine-grained time resolution than can be achieved with MRI. To get the most detailed measurements of short range and long range coordination (which the investigator expects will each have a different kind of abnormality in autism) it is necessary to use a high-density electrode array which covers as much of the entire scalp as possible with electrodes that are closely spaced. To do so, the NLM Family Foundation supported the purchase of a 128-lead EEG machine to upgrade the investigator's capacity from her 32 lead system which limits the measurements she can make. The investigator believes that electrophysiological measures are key to showing the ways that brain functional changes are related to sensorimotor, perceptual, learning and behavioral differences in autism.

Department of Neurology - Massachusetts General Hospital

Martha Herbert

Special Care Dentistry, Chicago, IL



Production of a DVD Presentation on Dental Care for Individuals with Autistic Spectrum Disorder for the 18 th Annual Meeting on Special Care Dentistry


This grant supports the development and distribution of a DVD presentation on Dental Care for Individuals with Autistic Spectrum Disorder. The DVD, which will include video highlights from the 2004 NLMFF-supported symposium on dental care for individuals with autism as well as moderator comments from Dr. David Tesini and Dr. Clive Friedman, will be presented at the 18 th Annual Meeting on Special Care Dentistry. The theme of the meeting is, "The Future of Special Care Dentistry - evidence based practice, policy, research and education." The objective of this DVD project is to increase awareness and understanding of autism amongst health care practitioners and administrators and to examine public and health policy issues related to autism. Special Care Dentistry is a unique international organization of oral health professionals and other individuals devoted to promoting oral health and well being for people with special needs.

Special Care Dentistry

State of the Art, Inc., Washington, DC

Distribution of "Autism Is A World" to Departments of Special Education at Colleges and Universities across the United States and Canada

The NLM Foundation supported the distribution of DVD copies of the Oscar-nominated documentary film, "Autism Is A World", to nearly 650 Departments of Special Education at colleges and universities across the United States and Canada . The goal of this project was to provide departments of Special Education with educational materials for use in the training of undergraduate and graduate students in their programs on issues related to autism and augmentative and alternative communication. "Autism Is A World" provides a unique and candid look into the world of autism through the eyes of Sue Rubin, a 26-year old Los Angeles woman diagnosed with autism at age four. Rubin, who had no effective means of communication, was considered to be mentally retarded until the age of 13 when she began using alternative and augmentative communication as a step leading towards independent communication. Written by Rubin herself, the 40-minute film details her innermost thoughts regarding her experiences of living with autism, relationships with others, and perceptions of self. Throughout the film, Rubin provides insight into the challenges of being an individual, disabilities-rights activist, and college student living with autism. The film was nominated for a 2004 Academy Award for Best Documentary Short Subject by the Academy of Motion Picture Arts and Sciences, and received the 2005 Henry Hampton Award for Excellence in Film & Digital Media from the Council on Foundations. "Autism Is A World" also received the 2005 Media Excellence Award from the Autism Society of America, the 2006 Edward R. Murrow Award for National News Documentary, and a 2006 CINE Golden Eagle Award .


State of the Art, Inc.

Syracuse University, Facilitated Communication Institute, Syracuse , NY

Principal Investigator: Douglas Biklen, Ph.D.

Core Funding, Strategic Planning Grant for the Facilitated Communication Institute, and Lurie Scholarship Fund

The NLM Family Foundation has supported the Facilitated Communication Institute for several years.  Through the Core Funding Grant, the Strategic Planning Grant and the Lurie Scholarship Fund, the NLM Family Foundation supports the FC Institute's activities in facilitated communication training, documentation and demonstration, and reinitiates a strategic planning process to better focus the Institute for the next 5-10 years of work in the field of autism and inclusion.

Doug Biklen

University of Oxford , Wellcome Trust Centre for Human Genetics, Oxford , UK

Principal Investigators: Anthony Bailey, M.D., Anthony Monaco, M.D., Ph.D.

Identifying and Understanding the Actions of Autism Susceptibility Genes (Co-funded with the Simons Foundation)

Autism spectrum disorders usually arise through the inheritance of a relatively small number of susceptibility genes, but these genes cause a very variable behavioral phenotype that can include milder but related difficulties in relatives. The investigators have identified several candidate susceptibility genes within replicated regions of linkage on chromosomes 7 and 2 and will type dense genetic markers in these genes and regions in a new set of families to identify the specific genetic variants that predispose to autism. They have already assessed relatives using interview measures of socio-communication difficulties and repetitive/rigid behaviors and will administer specific tests of social cognition and face recognition. The investigators will be able to dimensionalize the autism phenotype in two independent ways and use this information to aid in gene identification. Once susceptibility genes are identified they will investigate their molecular function. Additionally the investigators will use magnetoencephalography in a stratified sample of relatives to understand how the brain basis of a typical social difficulty (face processing) varies across the behavioral phenotype and how this relates to changes in the way the brain processes language information.

Wellcome Trust Center for Human Genetics

Anthony Monaco


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