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What is Autism?
Autism typically affects a person's ability to communicate, form relationships with others, and respond appropriately to the world around them. As recently as a decade ago it was estimated that only about four per 10,000 children were affected--however, research now suggests the rate may be at least ten times higher.
Some children with autism are relatively high-functioning, with speech and intelligence intact, but others are mentally challenged, mute, or have serious language delays. For some, autism makes them seem closed off and shut down; others appear locked into repetitive behaviors and rigid patterns of thinking. An infant with autism may avoid eye contact, seem deaf, and abruptly stop developing language. The child may act as if unaware of the coming and going of others, or physically attack and injure others without provocation. Affected infants often remain fixated on a single item or activity, rock or flap their hands, sniff or lick toys, seem impervious to burns and bruises, and may even mutilate themselves.
Many researchers are looking for answers about the causes, diagnosis, prevention, and treatment of autism. Research has made it possible to identify earlier those children who show signs of developing autism and thus initiate early intervention. Both psychosocial and pharmacological interventions can improve the behavioral and cognitive functioning of individuals with autism. Studies are evaluating medications such as risperidone and valproate, looking at mechanisms of action, safety, efficacy, and effects on cognition, behavior, and development.
Improved early diagnosis and differentiation of various forms of autism is a goal of brain imaging studies that are building a database on normal brain development in children. Scans of the normal structural and functional maturation of the brain will be compared with those from individuals with autism, speeding development of targeted treatments and evaluations of their effects. Yet, even the most advanced scanners cannot substitute for post-mortem brain tissue. Brain banks, such as the Harvard Brain Tissue Resource Center, are working with families touched by autism to arrange for tissue donation when affected members die.
Researchers are comparing the impairments seen in individuals with autism to impairments found in those with other disorders that affect the "executive" functions of the brain, such as schizophrenia, attention deficit disorder and Tourette's syndrome. In addition to cognitive impairments, individuals with autism often suffer from multiple psychopathologies, including impulse-control disorders, psychoses, obsessive-compulsive disorder, mood and anxiety disorders, and mental retardation.
Evidence suggests that unaffected family members may share with their ill relatives genes that predispose for milder behavioral characteristics that are qualitatively similar to those of autism. Some relatives of people with autism may exhibit subtle cognitive problems. Family members may also share telltale chemical signatures in the cells of brain circuits that may be implicated in the disorder. Researchers are studying such families to characterize these behavioral and biological traits, in hopes of tracing the variations in the genetic blueprint that contribute to illness.
Once autism-linked genes are identified, scientists will bring to bear sophisticated tools to find out what turns them on, what brain components they code for, and how they affect behavior. The prospect of acquiring such molecular knowledge holds great hope for the engineering of new therapies.
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