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Boston University Medical School , Boston , MA

Principal Investigator: Gene J. Blatt, Ph.D.

Cerebellar Circuitry in Autism (funded through NAAR)

Neuropathological studies in autistic brains have reported cellular alterations in the cerebellum, a structure believed to be important in motor skills, balance, and cognition. In the posterolateral cerebellar cortex, many Purkinje cells (PCs) are missing, which are targets for afferent projection fibers from the inferior olivary nucleus in the medulla of the brainstem. The missing PCs raise an interesting question: Were the missing PCs ever produced or were they produced only to die later in migration or at their normal location between the molecular and granular layers? If they died later, then GABAergic basket cells should have formed their elaborate axonal plexuses that surround the PC body forming a nest. If the PCs were never generated then basket cell nests would not be expected. The first aim of this study is to determine whether basket cell nests have formed in areas with a decreased number of PCs leaving "empty nests". The second aim of this study investigates whether the surviving PCs in posterolateral cerebellar cortex of individuals with autism represent a particular subpopulation of PC neurons or whether it is a more diffuse loss. The third aim investigates a major structure in the medulla of the brain stem that sends a direct projection to PCs, the inferior olivary nucleus. Findings from these studies may allow us to understand the developmental timing of autistic behavior and may lead to the development of new early interventions that target specific neurotransmitter systems.

Blatt Laboratory for Autism Research

Chapman University , Orange , CA

Principal Investigator: Don Cardinal, Ph.D.

A Two Year Study of Communication Options for People with Autism and Their Effects on Quality of Life

This investigator is conducting a national survey of individuals who know well a person who uses an alternative or augmentative communication (AAC) system.  Its intent is to determine if users of AAC have had significant increases in quality of life since they began using these communication systems.  Responses of those who identify Facilitated Communication (FC) as their primary communication method will be compared to individuals using other AAC methods.  A publication will be created that will describe the impact that FC has had in the lives of individual FC users.

Don Cardinal

New England Medical Center, Atlanta , GA
2000, 2001, 2002, 2003

Callaway Gardens Annual Autism Genetics Workshop

The purpose of the Callaway Gardens Annual Autism Genetics Workshop is to share unpublished data, ideas, and suggestions within the Autism Genetics Cooperative group, form limited collaborations for specific purposes, and generally spend 3½ days discussing how to find genes that predispose people to autism. This event was co-sponsored with National Alliance for Autism Research.

New England Medical Center

Syracuse University
Expanding Horizons for New Research into Facilitated Communication
Syracuse , NY

The meeting was designed to foster interdisciplinary discussion concerning future research directions for inquiring about facilitated communication and related communication strategies for people with autism and other developmental disabilities. Presentations included several by researchers who are in the midst of conducting quasi-experimental investigations of facilitated communication. Among those in attendance were Margaret Bauman, Doug Biklen, Donald Cardinal, Anne Donnellan, and Andrew Grayson. This was part of a larger conference entitled, "International Conference on Facilitation."

Syracuse University

Syracuse University, Facilitated Communication Institute, Syracuse , NY

Principal Investigator: Douglas Biklen, Ph.D.

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. The Foundation also provided a grant to Dr. Biklen to support his work in collecting autobiographical accounts from people with autism who had been previously considered low functioning but now communicate fluently and some even independently with use of FC.  Dr. Biklen has written a book of autobiographical accounts of seven individuals with autism published in 2005, entitled Autism and the Myth of the Person Alone .

Doug Biklen

Universidad Miguel Hernandez, Spain

Principal Investigator: Jorge J. Prieto, M.D., Ph.D.

A Microscopical Study on the Neuroanatomical Abnormalities of Language-Related Cortical Areas in Autistic Patients (funded through NAAR)

This project will explore the anatomical and neurochemical substrates of language disabilities characteristic of autism. Research has demonstrated abnormalities in parts of the autistic brain, including the cerebral cortex. The language impairment may be due to alteration of auditory processing in primary and secondary cortices and/or disruption of the normal functioning of higher-order cortical fields. Because there are alterations in functional explorations of cortical hearing and language processing, it can be hypothesized that such alterations are due to a disorganization of normal cortical architecture. Dr. Prieto will investigate the brains of deceased patients with autism, following a sequential approach: (1) analyze the gross anatomical alterations of the auditory cortical fields, and areas of Wernicke and Broca, (2) study the microscopical organization of the cerebral cortex in those three areas, and (3) study changes in cortical circuitry involving neurochemically identified pyramidal cells and interneurons in the language areas of both hemispheres from patients with autism.

Universidad Miguel Hernandez

University of Wisconsin , Madison , WI

Principal Investigators: Morton Ann Gernsbacher, Ph.D. & H. Hill Goldsmith, Ph.D.

Toward a Dyspraxic Subtype of Autism Spectrum Disorder (funded through NAAR)

These researchers suggest that results of genetic and brain imaging studies have been less definitive because of the heterogeneity of symptom profiles in persons with autism. They aim to identify and validate a subtype of autism, which they refer to as "developmental verbal dyspraxia." Developmental verbal dyspraxia (DVD) is a motor-speech programming disorder resulting in difficulty coordinating and sequencing oral-motor movements necessary to produce and combine speech sounds to form syllables, words, phrases, and sentences. The researchers hypothesize that some minimally or nonverbal persons with autism are characterized by developmental verbal dyspraxia. This project will identify and validate a DVD subtype of autism by screening all children with autism in a metropolitan area; identifying members of this group who are also characterized by DVD; selecting an autism control group of children not characterized by DVD and a typically developing control group; collecting extensive behavioral, medical, and developmental histories of all children in these groups; obtaining neuroanatomical data; and collecting and storing DNA for future candidate gene studies.

Gernsbacher Laboratory

Yale University Child Study Center, New Haven , CT

Principal Investigators: Fred R. Volkmar, M.D. & Katarzyna Chawarska, Ph.D.

Precursors of Joint Attention Skills in Autism and Related Conditions (funded through NAAR)

Joint attention is considered a basic social skill upon which rest the development of reciprocal communication and thinking about others. Deficits in joint attention are virtually universal in children with autism. Mechanisms underlying joint attention deficits are poorly understood. This study will identify and measure precursors of joint attention skills. The researchers will focus on spontaneous gaze monitoring, or the capacity for knowing gaze of others to objects and events. The precursors of this capacity will be studied, including the capacity for engaging in eye-to-eye attention with others by maintaining eye contact and the capacity for using gaze of others to regulate one's own behavior. The researchers aim to identify any differences in profiles of infants with autism from profiles of non-autistic developmentally delayed and typically developing children. This will allow the researchers to specify which abilities are present and which are not, in an effort to breakdown gaze monitoring into its component parts. This research could elucidate the origins of gaze abnormalities in autism, advance our understanding of neural substrates involved in the social disability seen in autism, and contribute to the design of diagnostic instruments aimed at detecting autism prior to 18 months of age.

Yale Child Study Center


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