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Coming out of that meeting, the Foundation, in partnership with the Landreth Family Fund, provided grant support to several investigators working in this area. The gap between genes and behavior poses an astonishingly difficult problem, possibly uniquely presented by each individual carrying the label 'autistic'.
On October 20th, these investigators presented on the progress of their work. Yet, many similarities across the spectrum are seen by neuro-imaging and other non-invasive physiological probes, suggesting that different gene sets might have common final pathways affecting neuronal migration, synaptic plasticity, and electrical signaling across networks.
Remarkably, this has been borne out in a recent study by Kanwisher and colleagues at M. It is also the case, based on the elegant work of Roberts and his collaborators at Children's Hospital of Philadelphia, that auditory information is abnormally encoded in children with autism owing to delayed cortical development (Edgar et al., Molecular Autism 6, 69-83, 2015).
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Recent resting state imaging studies at the Berenson-Allen Centre (BIDMC) involving differently-localized brain lesions, but with similar neurological symptoms, have revealed shared functional connectivity (Boes et al., Brain, 2015 in press).
Tal Kenet (Martinos Center, MGH) and associates have demonstrated that resting state circuitry in autism is abnormal and stunted during development (Kitzbichler et al, Brain, 2013). Fox and colleagues have suggested that these discoveries will make it possible to guide the application of stimulatory electric currents in distinct spatial and temporal sequence ('a symphony of pulses') to bring about therapeutically helpful redirection of brain circuits (Fox et al., PNAS (USA), E4367-E4375, 2014).
In 1998, the NLM Family Foundation began hosting a series of symposia in which invited professionals from various backgrounds and areas of expertise would convene to present their current work or research and discuss novel ideas for the advancement of autism research and treatment.
Participating professionals have varied from neuroimaging researchers, neurologists, and pediatricians to special educators, psychiatrists, and speech and language pathologists.
The group addressed the question of how noisy, overwhelming, or unreliable input from the peripheral nervous system in the early stages of life might disrupt the development of a reliable cortical system for planning and executing movements and behaviors.
There is a growing literature, both philosophical and scientific, on the concept of the ‘embodied mind’, the view that our cognitive frameworks evolve from the early engagement of our muscular and sensory systems with the external world, shaping through trial and error our categories of knowledge and their inter-relationships.
This would imply that there are a few global circuits perhaps that could be modulated in a number of different ways to improve basic neurophysiological processes underlying observed social and motor activity.
In considering how much of the familiar 'autism pie' is currently explainable in terms of specific genes it is clear that a large slice is due to rare de novo loss-of-function (LOF) mutations.
Topics included a survey of novel assistive devices and communication technologies, consideration of the potential of the i Pad and other mobile technologies to support communication and inclusion, introduction to personal health informatics, examination of the use of avatars to engage individuals in learning how to control intended movements and speech production, employment opportunities for those with ASD in the high-tech industry, vocational training programs, and educational access via distance learning. Kiernan, Ph D University of Massachusetts, Boston Screening of the documentary, “I Want to Say,” produced by Goodby Silverstein & Partners and production company Bodega in partnership with Autism Speaks, that tells the story of how assistive technology can help to unlock the voices of children with autism through technology.