A Hot Spot of Genetic Instability in Autism

Sixty-five years after Leo Kanner first described autism,1 we are beginning to move beyond description of this clinically heterogeneous neurobehavioral syndrome toward a deeper understanding of its biologic complexity. In areas such as genetics and neuroscience, researchers have joined the search for objective measures to elucidate autism's pathogenesis.It has become clear that the solutions to autism will be neither simple nor uniform among patients with various autistic syndromes. At least 60 different genetic, metabolic, and neurologic disorders have been associated with autism and involve approximately 10% of patients, whose clinical presentations frequently vary, even among those with known disorders. . . .