As we anticipate the start of a new year, Cure Autism Now celebrates the quickening of the pace of research into the causes, treatments and a cure for autism.
When Jon Shestack and Portia Iversen founded Cure Autism Now in 1995, there was almost no research into the biological underpinnings of this mysterious and frustrating disorder. This past November, at the Society for Neuroscience conference in New Orleans, there were an unprecedented 60 abstracts of scientific endeavors into autism research-and another 30 that addressed related disorders and referenced autism! The breadth of private funding has increased, but even more significant is the growing support of autism research by the National Institutes of Health and its subsidiary, the National Institute of Mental Health. Grants made available through these entities are enabling Cure Autism Now to expand our Autism Genetic Resource Exchange (AGRE), which in turn will generate more research projects in autism.
Among the 60 abstracts presented at the Society for Neuroscience conference were many CAN-funded efforts and works by scientists who have collaborated with Cure Autism Now as either grant recipients or advisors. Following is a brief summary of the CAN-related research, which highlights the expanding scope of research into autism. The names of CAN-affiliated researchers are highlighted, but generally each of these researchers represents part of a larger team working on the initiatives.
Download Autism Abstracts Presented at Society for Neuroscience
Abstracts Presented at '03 SFN Conference
The recipient of Cure Autism Now's Genius Award, Michael Merzenich, and his research team at the University of California, San Francisco found that rats deprived of oxygen at the time of birth suffered from auditory processing and attention deficits that persisted into young adulthood. They concluded their research supports the theory that oxygen deprivation around the time of birth may be a risk factor for developmental disabilities like autism.
Auditory pathways were also the subject of CAN-funded research by Michael Kilgard at the University of Texas at Dallas. Kilgard's team used rats to investigate how information processing and learning are affected by sensory experiences. In their experiments, they found that they could alter how a rat hears by making it listen to the same sounds repeatedly. The intent was to provide greater understanding of the normal function of sensory adaptation in the hope of shedding light on disorders in which there is reduced adaptation (tinnitus, schizophrenia and autism.)
Another project investigating sensory pathways was led by Nancy Minshew, a member of CAN's Scientific Advisory Board . In two separate studies, Minshew and her collaborators at the University of Pittsburgh School of Medicine have utilized eye-movement tracking combined with brain scans (fMRI) to assess the deficits in brain regions of people with high-functioning autism. One study found that compared to controls, autistic subjects are able to perceive motion normally, but the individual's ability to respond to it at a normal rate is impaired. Another study found brain activation in frontal eye fields and the cerebellum was reduced in the autism group; this study also noted increased activation in other areas which might indicate that greater voluntary attentional control is needed to perform what should be a simple 'reflexive' visual task. The researchers conclude that these findings are consistent with white matter pathway disturbances and frontal eye field and cerebellar abnormalities, and are consistent with the high prevalence of language deficits in autism.
An exciting finding in the area of white matter abnormalities comes from CAN-funded researcher Martha Herbert, whose team led further investigation into the common finding of increased brain volume in autism as characterized by unexplained white matter enlargement. They applied a parcellation method to the white matter, and found that volume increases are concentrated in the superficial radiate white matter in both autism and developmental language disorder. Since mylenation of the radiate white matter occurs later in brain development, this finding is consistent with postnatal increases in head circumference in autistic children as reported elsewhere. The researchers conclude that the widespread enlargement of the radiate white matter suggests ongoing processes occurring after birth that affect brain connectivity, and implies a similar cause in both autism and developmental language disorder.
Brain function was also explored in CAN-funded research by Javier Stern of Wright State University in Ohio. Stern and several other scientists were interested in further exploration of the neuropeptide oxytocin, because of previous evidence of its role as a mediator of social behavior and known abnormalities in neuropsychiatric disorders, including autism. Utilizing oxytocin knockout mice (an animal model of social behavior disorders) they found that electrical impulses and currents in the brain are altered in animals that lack oxytocin.
Several abstracts were presented on the genetic aspects of autism. AGRE Steering Committee Chair Daniel Geschwind and his team at the University of California, Los Angeles performed a genomewide scan on 345 families (all with at least two affected siblings) to identify genes that might indicate autism susceptibility. The results yielded moderate evidence for linkage on chromosomes 17, 5, 11, 4 and 8. The most significant finding was on chromosome 17q, which contains the serotonin transporter gene, found to be implicated in other genetic studies. This team will continue with further exploration into the serotonin transporter gene and its association with autism.
Joseph Buxbaum of Mount Sinai School of Medicine, also a member of the AGRE steering committee, explored the expression of the KIAA0513 gene, which is upregulated in chronic schizophrenia. There is speculation that this gene may be involved in cerebellum development, and as such may be relevant to autism.
A 2003 CAN grant recipient, Antonio M. Persico, M.D., investigated whether altered forms of the Reelin gene that have been associated with autism influence gene expression in lab experiments. Since Reelin plays a pivotal role in neurodevelopment, the findings fit with a gene-environment interactive model of a cause of autism. The proposed model postulates that genetically-vulnerable individuals producing lower amounts of Reelin, if prenatally exposed to organophosphates (pesticides or insecticides) during critical periods of development, could undergo altered brain development resulting in autistic disorder.
Also seeking an environmental connection to neurological pathways, researcher R.C. Deth, a recipient of AGRE biomaterials, explored the effects of dopamine and insulin-like growth factor on methionine synthase, and found a novel pathway that may be important in development. They also found that this pathway can be inhibited significantly by the toxins ethanol, lead, mercury, aluminum and thimerosal.
These science initiatives represent only a fraction of the research going on in the field of autism today. With the assistance of our many supporters, Cure Autism Now is confident we will find the causes and a cure for autism.
Download Autism Abstracts Presented at Society for Neuroscience