AUTISM DEFINED
By Martha R. Herbert, MD, PhD
 Dr. Herbert is an Assistant Professor of Neurology at Harvard Medical School, a Pediatric Neurologist with subspecialty certification in Neurodevelopmental Disabilities at the Massachusetts General Hospital, a Principal Investigator, a member of the MGH Center for Morphometric Analysis, and an affiliate of the HST-MGH Martinos Center for Biomedical Imaging. Her background in pediatric neurology, evolutionary biology and history of science has influenced her orientation toward systems biology, brain connectivity and brain-body interrelationships. In 2004, she received the first Cure Autism Now Innovator Award. Dr. Herbert is the author of "The Autism Revolution: Whole-Body Strategies for Making Life All It Can Be". The book was released in 2012. The book can be purchased through our Bookstore.
Autism is defined behaviorally, as a syndrome of abnormalities involving language, social reciprocity and hyperfocus or reduced behavioral flexibility. It is clearly heterogeneous, and it can be accompanied by unusual talents as well as impairments, but its underlying biological and genetic basis is unknown. Autism has been modeled as a brain-based, strongly genetic disorder, but emerging findings and hypotheses support a broader model of the condition as genetically influenced and systemic. These include imaging, neuropathology and psychological evidence of pervasive (and not just specific) brain and phenotypic features; postnatal evolution and chronic persistence of brain, behavior, and tissue changes (e.g., inflammation) and physical illness symptomatology (e.g. gastrointestinal, immune, recurrent infection); overlap with other disorders; and reports of rate increases and improvement or recovery that support a role for modulation of the condition by environmental factors (e.g. exacerbation or triggering by toxins, infectious agents, or other stressors, or improvement by treatment). Modeling autism more broadly encompasses molecular and cellular mechanisms, as well as chronic tissue, metabolic and somatic changes previously addressed only to a limited degree. The heterogeneous biologies underlying autism may conceivably converge onto the autism profile via multiple mechanisms that all somehow perturb brain connectivity. Studying the interplay between the biology of intermediary mechanisms on the one hand and processing and connectivity abnormalities on the other may illuminate relevant final common pathways and contribute to focusing the search for treatment targets in this biologically and etiologically heterogeneous behavioral syndrome. |
