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Autism, a brain disorder that affects 1 to 2 in 1,000 Americans, ¹ too often results in a lifetime of impaired thinking, feeling and social functioning—our most uniquely human attributes. Autism typically affects a person's ability to communicate, form relationships with others, and respond appropriately to the external world. The disorder becomes apparent in children generally by the age of 3. ²

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Some people with autism can function at a relatively high level, with speech and intelligence intact. Others have serious cognitive impairments and language delays, and some never speak. In addition, individuals with autism may seem closed off and shut down, or 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. Infants with autism often remain fixated on a single item or activity, rock or flap their hands, seem insensitive to burns and bruises, and may even mutilate themselves. Although autism is about 3 to 4 times more common in boys, girls with the disorder tend to have more severe symptoms and greater cognitive impairment. ²

Individuals with autism often have symptoms of various co-occurring mental disorders, including ADHD, psychoses, depressive disorders, obsessive-compulsive disorder, and other anxiety disorders. ³ About one-third of children and adolescents with autism develop seizures.

Research Findings and Directions

The National Institute of Mental Health—in collaboration with the National Institute of Child Health and Human Development, the National Institute of Neurological Disorders and Stroke, and the National Institute of Deafness and other Communication Disorders—is searching for answers about the causes, diagnosis, prevention, and treatment of this devastating disorder. Research findings have made it possible to identify earlier those children who show signs of developing autism and thus to initiate early intervention, which can lead to improved cognitive and behavioral outcomes. ^4,5

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 are working with families to arrange for tissue donation following the deaths of individuals with autism.

While it is known that heredity plays a major role in complex disorders like autism, the identification of specific genes that confer vulnerability to such disorders has proven extremely difficult. ⁶ Once autism-linked genes are identified, however, scientists will bring to bear sophisticated research tools to find out what activates them, 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.

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. ⁷ For example, some relatives of people with autism may have mild social, language, or reading problems. Family members also may share telltale neurochemical signatures that may be implicated in the disorder. ⁸ 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 autism.

Disorders - Autism