[Note: Shared for #AutisticHistory archive purposes. This is NOT An Autistic Ally.]
Research Projects Cure Autism Now Funded in 2000
Conditional Neurotrophin Knock-out Mice as a Model for the Developmental Neuropathology of Autism Schahram Akbarian, Ph.D., Massachusetts General Hospital (Young Investigator)
Dr. Akbarian’s group has recently generated a mutant mouse that lacks the developing brain neurotrophin-3 (NT-3), a growth factor molecule. The mice are viable and have a normal life span. However, their brains have some developmental abnormalities that, interestingly enough, have also been found in some cases of autism. These include abnormal shape and size of the cerebellum (a brain structure in the back of the brain involved in motor control and thought processing) and abnormalities in the prefrontal and cingulate cortex (a brain area that is important for emotion, social interaction and thought processing). It is possible that a mouse that lacks NT-3 in the developing brain may become one of the first animal models for autism. This project’s goal is to clarify this hypothesis. An animal model of autism will be of great advantage for autism research, because it would allow for the testing of novel drugs as a potential treatment for autism.
Sensory-Motor and Social-Communicative Symptoms of Autism in Infancy Grace T. Baranek, Ph.D., University of North Carolina, Chapel Hill (Pilot Study)
Defining the diagnostic symptoms of autism in infancy and understanding the early course of development for infants with autism are essential components of the effort to find effective treatments and possible cures for this neurodevelopment disorder. The conventional diagnostic criteria that are appropriate for somewhat older children with autism cannot be applied to the screening or diagnosis of infants for autism due to their reliance on judgments about behaviors that do not typically emerge until developmental ages beyond infancy. Some early social-communicative behaviors such as pointing at objects to show them to others have proven useful in screening for autism at 18-24 months of age, based on work by Simon Baron-Cohen and his colleagues in England. In addition, recent work by the principal investigator of this project suggests that the sensory-motor behaviors of infants with autism differ from both infants developing typically and with infants with other developmental disabilities as early as 9-12 months of age. For example, infants with autism mouthed objects excessively, responded less to novelty in the environment, showed more aversion to touch, and were less responsive to people calling their names as compared with other infants.
This project is examining these types of sensory-motor behaviors as well as the social-communicative behaviors that typically emerge in children between 9-12 months, and then following the development of these behaviors in the same infants at a later point in time (15-18 months). The methodology of the study involves studying the behavior of children as recorded on home videotapes, which will be supplied to the researchers by families, who consent to participate in the study. The purpose of the study is to determine if there are reliable indicators of autism as early as 9-12 months and if so, to compare the symptoms of autism at 9-12 months with the symptoms of autism at 15-18 months. The information obtained from the research will be used to develop a research version of an infant screening tool for autism, which will then become the basis for further research on the very early diagnosis of autism and intervention strategies for children identified as early as the end of the first year of life.
Three-Dimensional Morphometry of the Hippocampus in Children with Autism Stephen R. Dager, M.D., University of Washington (Pilot Study)
The co-investigators on this project have extensive experience applying 3-D morphometric methods to the adult brain and have undertaken pilot work developing electronic templates of 3-year-old healthy controls. Dr. Geraldine Dawson is nationally recognized as an expert on autism and will provide expertise on neurodevelopmental aspects of autism to ensure this technique-driven project retains a clinical ground. A “Neuroimaging of Autism” grant funded through NICHD, has been the entré into the field of autism research for the neuroimaging group at the University of Washington. To date, they have performed MRI/spectroscopy studies on 28 three-year-old children with autism. This grant will allow the investigators to apply high dimensional imaging analysis tools that they have developed to systematically map out the 3-D morphometry of children’s hippocampal region. This process will generate data comparing autistic children with age-related controls at ages 3-4 years and again at ages 6-7 years when restudied.
Identification and Characterization of Genes Involved in the Etiology of Autism Spectrum Disorders Jeanette Holden, Queen’s University (Pilot Study)
The overall objective of this project is to identify and characterize genes important in the etiology of autism spectrum disorder. This will enable an understanding of the molecular basis of these conditions and the opportunity to develop new treatments. Previous results have allowed the investigators to formulate a neurodevelopmental model for autism that involves an interaction of alleles in specific genes having to do with the synthesis, metabolism and function of biogenic amines. We have proposed that excess dopamine and/or too little norepinephrine in maternal serum during pregnancy (resulting from gene variations in the dopamine ŝ-hydroxlase and monoamine oxidase A genes), combined with specific alleles in the serotonin, norepinephrine, or dopamine transporter genes expressed on the placenta or other fetal cells, leads to abnormal brain development and the susceptibility to autism/PDD. This model is being tested by examining the candidate genes in additional families; examining expression of these genes during pregnancy and in placenta; and extending the studies to a large number of simplex families having only a single affected individual. The specific aim for this project is to collect samples and clinical information on 250 simplex families in Ontario in which to test our mode. Duplicate families will be sent to AGRE when families agree to this protocol. Genetic analyses of the samples will be carried out with separate funding.
A Non-Human Primate Model to Study Prefrontal Cortex Dysfunction in Autism Susan D. Iversen, Ph.D., Oxford University (Pilot Study)
A major problem in the search for the neural basis of autism is that many of the core symptoms like social isolation and language deficits are difficult or even impossible to investigate in animal models. Only recently, it has been discovered that autistic subjects have problems in a simple eye movement task. It was found that autistic subjects had no problems looking toward a spot of light, but it was very difficult for them to look away from the light. We believe that this finding can provide a new approach toward the investigation of the neural basis of autism, because eye movements can be investigated in monkeys. Monkeys and humans share all the brain areas that control eye movements and we already have a good understanding of the principal neural mechanisms that are necessary to move the eyes. This project will train monkeys on exactly the same eye-movement task in which they see a spot of light and have to look the opposite way. The investigators will first identify the processes in the brain that occur when monkeys perform this task by recording the activity of single neurons in the brain. Then, the same behavior abnormality will be created in the animals that is found in the autistic subjects by deactivating and modulating the neural activity with substances that block the receptors of certain neurotransmitters that have been implicated in autism. This should provide insights into the brain mechanism that is altered in autism.
Identification of Autism-linked Genomic Regions by a Genome-wide Mapping and Genetic Study on Chromosomal Abnormality of 15q Jianjun Liu, Ph.D., Columbia University (Young Investigator)
Even though the physiological mechanism of autism is still not clear, scientific studies have shown that the development of autism is influenced by inheritable genetic factors. One of these genetic factors might locate in chromosome 15 because many cases have been reported indicating a possible association between the chromosomal abnormality of chromosome 15 and autism or autistic behavior. This project is proposed to further investigate this possible association in AGRE’s families and, if the association is confirmed, to try to identify gene or genes that may increase the risk that a child will develop autism.
Secular Trends in the Occurrence of Autism Craig Newschaffer, Ph.D., Johns Hopkins School of Public Health (Contracted Research)
The goal of this project is to produce a research-review-style paper on trends in autism incidence of a quality suitable for publication in an academic journal. The paper will discuss available data (focusing on the most recent available information), explain epidemiological issues in the interpretation of such information, draw analogies from data on secular trends in the risk of a select set of other diseases initiating in early childhood, critically explore the coherence of the autism incidence data with current theories of autism causality, and make suggestions for research activities that would help improve our ability to accurately measure and interpret secular trends.
Identification of Candidate Genes for Involvement in Autism Stephen W. Scherer, Ph.D., Hospital for Sick Children (Pilot Study)
There is now overwhelming evidence of the importance of genetic factors in the etiology of autism. In fact, evidence points toward autism as being one of the neuropsychiatric disorders most influenced by genetic factors. Recent molecular genetic studies have found a region on human chromosome 7 that likely contains a gene that when mutated causes autism. The gene identification will provide insight into the basic molecular defect, allow for proper diagnosis and perhaps even lead to a treatment for autism.
Molecular Mechanisms of Fragile X Syndrome: Understanding the Function of the Drosophila Homologue of the Fragile X Gene, FMRI Haruhiko Siomi, Ph.D., University of Tokushima (Pilot Study)
Autistic features have been described in individuals with well-characterized genetic disorders, most notably fragile X syndrome. This suggests that there may be common mechanisms leading to the two disorders. Fragile X patients fail to make the protein product of the fragile X gene, fMR1. Animal models often provide us with great clues as to the mechanisms leading to given human genetic disorders. To elucidate the function of fMR1, we use the fruit fly as a model system since a plethora of new and old methodology is available that can be applied to questions involving complex behaviors such as learning and memory in fruit flies. Once we elucidate the function of the fruit fly fMR1, we can effectively begin to address the question of how the lack of fMR1 expression leads to symptoms including autistic features in fragile X syndrome.
Autism: Association Studies Using Coding Region Single Nucleotide Polymorphisms in Candidate Genes Pamela Sklar, Ph.D., Massachusetts General Hospital (Pilot Study)
Identifying the genes responsible for autism has been very difficult for reasons that are probably specific to the type of genes that cause the disease. This project embraces an alternate strategy that takes into account the likelihood that there are many genes that cause autism, each of which increases the risk of getting autism by a small amount. The approach designed looks for candidate genes based on the evolving understanding of the neurochemical and neurodevelopmental abnormalities in autism and asks the question, “Are mutations in these genes associated with the risk of contracting autism?” The advantages of the approach Sklar has pursued are that it is occurring in the setting of a large independent effort to collect mutations in thousands of genes and that the principal investigator has developed technology for linking these mutations to patients with autism.
Detection of Autism and Asperger’s Syndrome in 4-10 months-old Infants Philip Teitelbaum, M.D., University of Florida (Treatment Grant)
Dr. Teitlelbaum is developing methods to facilitate the early diagnosis of autism and Asperger’s syndrome as early as 4 months of age. In 25 out of 25 infants so far, that turned out later to be autistic, they have found characteristic disturbances in their movement that can be useful to provide early diagnosis. In Asperger’s syndrome, the movements are less disintegrated than in more severe autism, but movement disturbances are present in every child studied so far. The investigators would like to produce a self-explanatory video that can be made available to parents, pediatricians, and professionals to help them recognize these movement disturbances. Then, they can refer the children for careful observation and therapy by professionals skilled in the treatment of autism and Asperger’s syndrome. The group is also investigating the lateral head-righting reflex as a simple rapid diagnostic screening technique useful for pediatricians to test for autism in babies as early as 8-10 months of age.
More With Cure Autism Now
Autistic people have fought the inclusion of ABA in therapy for us since before Autism Speaks, and other non-Autistic-led autism organizations, started lobbying legislation to get it covered by insurances and Medicaid.
ABA is a myth originally sold to parents that it would keep their Autistic child out of an institution. Today, parents are told that with early intervention therapy their child will either be less Autistic or no longer Autistic by elementary school, and can be mainstreamed in typical education classes. ABA is very expensive to pay out of pocket. Essentially, Autism Speaks has justified the big price tag up front will offset the overall burden on resources for an Autistic’s lifetime. The recommendation for this therapy is 40 hours a week for children and toddlers.
The original study that showed the success rate of ABA to be at 50% has never been replicated. In fact, the study of ABA by United States Department of Defense was denounced as a failure. Not just once, but multiple times. Simply stated: ABA doesn’t work. In study after repeated study: ABA (conversion therapy) doesn’t work.
What more recent studies do show: Autistics who experienced ABA therapy are at high risk to develop PTSD and other lifelong trauma-related conditions. Historically, the autism organizations promoting ABA as a cure or solution have silenced Autistic advocates’ opposition. ABA is also known as gay conversion therapy.
The ‘cure’ for Autistics not born yet is the prevention of birth.
The ‘cure’ is a choice to terminate a pregnancy based on ‘autism risk.’ The cure is abortion. This is the same ‘cure’ society has for Down Syndrome.
This is eugenics 2021. Instead of killing Autistics and disabled children in gas chambers or ‘mercy killings’ like in Aktion T4, it’ll happen at the doctor’s office, quietly, one Autistic baby at a time. Different approaches yes, but still eugenics and the extinction of an entire minority group of people.
Fact: You can’t cure Autistics from being Autistic.
Fact: You can’t recover an Autistic from being Autistic.
Fact: You can groom an Autistic to mask and hide their traits. Somewhat. … however, this comes at the expense of the Autistic child, promotes Autistic Burnout (this should not be confused with typical burnout, Autistic Burnout can kill Autistics), and places the Autistic child at high risk for PTSD and other lifelong trauma-related conditions.
[Note: Autism is NOT a disease, but a neurodevelopmental difference and disability.]
Fact: Vaccines Do Not Cause Autism.