The neurobiology of infantile autism

Early infantile autism is the most severe of a group of neurodevelopmental syndromes called the pervasive developmental disorders. The clinical features of autism vary greatly, but, by definition, include deficits in social relatedness, communication, and interests or routines. The onset of autistic signs and behaviors typ ically occurs in infancy, and the syndrome is usually fully present by the fourth year. The presence of mental retardation affects the clinical picture greatly. Severely autistic children may be retarded and mute and are often preoccupied with repetitive activities; they often exhibit motor stereotypes, such as rocking or hand flapping. They can be profoundly withdrawn and may show extreme aversion to social or physical contact. More mildly affected children may have normal or even superior intelligence, with well-developed language skills. Their deficits in social relatedness and preoccupation with rituals and routines may set them apart as very odd, but not necessarily as autistic. Autism occurs in 1 of 2000 live births; boys outnumber girls about 3 or 4:1. Although there are no localizing neurological signs in autism, mild or "soft" neurological signs are common and grand mal seizures are frequently present after puberty (Lotspeich LJ, Ciaranello RD. The neurobiology and genetics of infantile autism. In: Bradley R, editor. International reviews of neurobiology. San Diego: Academic Press 1993:87-129). The Neuroscientist 1:361-367, 1995