Clinical, genetic and cytogenetic study of autistic children

Abstract

Infantile autism is characterized by a typical behavior that may be caused by an organic disease or by an emotional disorder. The objective of the present genetic-clinical and cytogenetic study was to detect the presence of organic diseases, especially those of genetic etiology, that migth be related to the signs and symptons of autism presented by 17 boys who attended at the Ribeirão Preto Association for Autistic Children. We concluded that 14 individuals had no organic alterations that might be related to their clinical picture; one subject presented a clinical picture compatible with macrocephaly; one subject presented a clinical picture compatible with a new X-linked mental deficiency syndorme associated with macrossomy, macrocephaly and obesity, and one subject presented the Angelman Syndrome (AS). The study of Xq27.3 fragility was also normal in all cases, excluding the presence of Fragile X syndrome in all subjects. The specific molecular study for the detection of AS revealed the presence of biparental inheritance for the markers used. Since the clinical aspects of this patient was extremely suggestive, we conclude that he represented a case of AS with biparental inheritance.