Angelman syndrome

Abstract

In 1965, Dr. Harry Angelman, an English physician, first described three children with characteristics now known as the Angelman syndrome (AS) (1). All these children had a stiff, jerky gait, absent speech, excessive laughter, and seizures. During the next 20 years, additional cases were noted but the condition was considered to be extremely rare and many doubted its existence. The first reports from North America appeared in the early 1980s, but during the last two decades several hundred cases have been reported and several thousand individuals are known worldwide to be affected. Angelman syndrome is now familiar to most clinical geneticists and child neurologists as a recognizable syndrome associated with mental retardation and infantile seizures. However, the AS clinical features are not yet widely appreciated among most general pediatricians or family practitioners. Several general reviews have recently appeared in the genetic literature (2-4) and this chapter reviews the salient neurological and diagnostic aspects of the condition.