Julia Bailey, Ph.D., University of California, Los Angeles (Young Investigator)
The goal of this project is to identify associations of candidate genes and autistic disorder through a family based non-parametric (model free) method. This method does not require assumptions about the disease process and focuses on regions that have been previously identified in literature, through chromosomal aberrations, or in association with other disorders. Once susceptibility genes can be identified and mapped, it will allow for more accurate and earlier diagnoses and better treatment through target gene therapy.
James E. Black, M.D., Ph.D, University of Illinois at Urbana-Champaign (Pilot Research)
Alterations of the connections between neurons are thought by some to be the basis for behavior and intellectual problems of autism. This study will utilize new microscopy techniques to examine neuronal connections in areas of the brain that, according to recent studies, have substantial differences in volume and have been pinpointed as most likely to have pathological organization. Specific focus will be on the examination of neuron fibers connecting the cerebral hemispheres (measures that presumably would reflect disturbed cortical development), neurons in the anterior cingulate cortex (areas involved in regulating attention and higher cognitive functions) and neurons in the cerebellum (another area strongly implicated in the psychopathology of autism)
Randy D. Blakely, Ph.D., Vanderbilt University (Pilot Research)
This study seeks to determine whether forms of a gene that controls the availability of the brain chemical serotonin - a chemical that has been implicated in many mood and thought disturbances - is specifically inherited in autism and whether subgroups can be identified genetically. Findings may ultimately help identify at risk children and establish better guidelines for rational drug treatments.
Joseph D. Buxbaum, Ph.D., Mount Sinai (Pilot Research)
Diseases with genetic components are associated with alterations in genes which are heritable. This study focuses on the genetic contribution to autism by screening the human genome for markers which are close to altered genes. Such analysis is intended to lead to the identification of regions of the genome which contain genes causative in the development of autism and ultimately the responsible genes themselves. Novel therapies based on these genes can then be developed.
Gina DelGiudice-Asch, M.D., Mount Sinai (Pilot Research)
Recently, the monoclonal antibody D8/17 marker has been found to be elevated in a subtype of obsessive-compulsive disorder subjects. It has also served as a marker for genetic susceptibility to rheumatic fever which is produced by an autoimmune response to streptococcal antigens, some of which are described by obsessive compulsive symptoms and accompanying movement disorders. This study will assess D8/17 in matched autism and control subjects, assess antineuronal antibodies, and explore the role of D8/17 in the cause, expression and treatment of autism.
Martha R. Herbert, M.D., Ph.D., Massachusetts General Hospital (Young Investigator)
Existing evidence such as abnormal brain size and thinking processes in autistic children suggests that the whole brain is affected in autism. Up until now, techniques for studying brain structure abnormalities have looked only to specific areas of the brain. In this study, the whole-brain structure analysis method (which analyzes the whole brain into fine-grained units so that volumes for every part and region of the brain can be determined) will be applied to autism for the first time. The purpose of this analysis is to provide new ways of understanding where the abnormalities are distributed in the autistic brain and what went wrong in the brain's development to make it this way.
Eric Hollander, M.D., Mount Sinai (Pilot Research)
Using a sixteen week placebo-controlled trial, this study will assess the effects of fluoxetine (a serotonin reuptake inhibitor medication commonly known as Prozac) in children and adolescents on overall autistic severity and compulsive, language and social deficit dimension found in autism.
Jeff Lewine, Ph.D., University of Utah (Pilot Research)
This study will use a new brain imaging technique called Magnetic Source Imaging (MSI) to evaluate auditory processing and brain organization before and after Auditory Integration Training (AIT), a therapy involving listening to frequency and amplitude modulated music. It is hypothesized that autistic children show unusual auditory profiles because of disorganization of the mapping of the auditory signal space onto the brain surface and that AIT stimulates the brain, producing a reorganization of auditory processing. Using MSI it is possible to determine exactly which parts of the brain process specific sounds. This study will ultimately help to clarify the baseline auditory dysfunction in autistic children, define the mode of action for AIT and determine its clinical efficacy.
Margherita Molnar, University of California, Davis (Young Investigator)
Abnormalities in the amygdala are thought among researchers who study behavior in autism to underlie the social and emotional abnormalities in this disorder. In order to identify neural and molecular abnormalities in the amygdala in patients with autism, this project will utilize standard anatomical and histological procedures, and more advanced sterological and molecular techniques to perform postmortem neuroanatomical studies on the amygdaloid complex in a small sample of autistic cases and matched controls. In addition, utilizing immunohistochemical techniques, the expression of certain critical neurotransmitters will be analyzed.
Theodore Page, Ph.D., University of California, San Diego (Pilot Research)
The goal of this project is to develop a rapid screening method for Nucleotidase-Associated Pervasive Developmental Disorder (NAPDD), a seemingly common autistic syndrome characterized by poor social interaction, hyperactivity, distractibility, speech deficit, seizures, ataxia and frequent infections. Focus will also be on determining how the biological defect in this disorder causes autistic symptoms, and the basis of the effectiveness of uridine in the treatment of this disorder. This will lead not only to a better understanding of NAPDD but of autistic disorders in general.
Elaine Perry, Ph.D., University of Newcastle (England) (Pilot Research)
This study is based on the idea that one of the disturbances in brain transmitter signaling systems in autism involves a chemical called acetylcholine. The acetylcholine system is critically involved in attentional processes, an area clearly affected in autism. In examining a range of molecular markers in adult brain tissue, researchers will determine if and how the acetylcholine system is directly involved. Results from this study could lead to new testing of drugs aimed at restoring normal system functioning. First year funding partner: Solving the Mystery of Autism Foundation, Inc.
Richard H. Sandler, M.D., Rush Presbyterian-St. Luke's Medical Center (Pilot Research)
This trial will be conducted on a subgroup of autistic children with chronic diarrhea and delayed onset autism. As many of this group have frequent antibiotic courses preceding their chronic diarrhea, this study will explore the possible role of antibiotics in releasing neurotoxins that are thought to be present in the system and that might be implicated in autism.
Valerie Stone, Ph.D., University of Cambridge (Young Investigator)
The goal of this study is to develop an instrument/test that measures different levels of social skills, from non-verbal to verbal. This test is being used to compare individuals with autism or Asperger's Syndrome and neurological patients whose social deficits mirror those of people with autism. In the future, it is hoped that these social tests can be used in neuroimaging research in which the brain activation of normal individuals is scanned while they are using specific social skills. Understanding which neural structures are involved in social abilities will allow for the design of more appropriate interventions and new treatments for individuals with autism.