AUTISM AS A DISORDER OF THE IMMATURE BRAIN

Autism (or better the autistic spectrum disorders – ASDs) is now known to be a strongly genetically-influenced disorder of early childhood with an extremely broad range of severity. It is not a “disease,” in the sense that it has many etiologies, mostly genetic rather than environmentally-determined. In most cases multigenic effects on brain development are modulated by environmental influences. Core deficits include a) social obtuseness, blunted empathy and deficient insight, b) impaired verbal and nonverbal communication and imagination, and c) cognitive and behavioral inflexibility and stereotypies. Cognition, not a defining criterion, regularly has an extremely uneven profile. The neurologic basis of motor abnormalities, aberrant sensory processing and epilepsy remains poorly understood, so are the causes for early regression of language, sociability, and play in toddlers. Electrophysiologic and brain imaging reveal subtle abnormalities, as has so far neuropathologic examination of the few brains available for study. All children with poor language must undergo prompt, definitive hearing testing and all children require a physical and neurologic evaluation to rule out diagnosable and treatable etiologies, which are infrequent. There is no place for routine genetic or laboratory testing, brain imaging or electrophysiologic investigation outside of clear clinical indications, unless the child is enrolled in a formal research study. Language and psychological evaluation is needed to prescribe on-going individualized education, the most potent tool available for altering brain development. There is no medical cure and the use of neurotropic medications is limited to improving troublesome symptoms that interfere with education and behavior at home and in school. Prognosis for independence in adulthood is unreliable in very young children so that early intensive intervention is critical and often highly beneficial within the biologic constraints of the child's brain.

Keywords: autism, children, sociability, language, stereotypies, cognition, epilepsy, autistic regression, brain imaging, early education