AUTISM IN ANGELMAN SYNDROME - A POPULATION-BASED STUDY

The aim of this study was to examine the prevalence of Angelman syndro me in prepubertal school-aged children and analyze its comorbidity wit h autistic disorder. A clinical/psychiatric evaluation of a population -based sample of 6- to 13-year-old mentally retarded children with act ive epilepsy was performed, Four individuals in a total population of almost 49,000 children conformed to the clinical diagnosis of Angelman syndrome, Two of these had a typical microdeletion at chromosome 15q1 1-13. The minimum prevalence of Angelman syndrome was estimated at 0.0 08% (1: 12,000) in the examined age group. All 4 children with Angelma n syndrome met full behavioral criteria for the diagnosis of autistic disorder/childhood autism, It is concluded that Angelman syndrome is u ncommon, but more frequent than previously estimated, The diagnosis sh ould be considered in all patients with combined autistic disorder, se vere mental retardation, and epilepsy, The implications of the possibl e association of Angelman syndrome and autism are discussed.