RESUMO
The autism spectrum disorder (ASD) is a complex disorder encompassing a broad phenotypic and genotypic variability. The short (S)/long (L) 5-HTTLPR polymorphism has a functional role in the regulation of extracellular serotonin levels and both alleles have been associated to ASD. Most studies including European, American, and Asian populations have suggested an ethnical heterogeneity of this polymorphism; however, the short/long frequencies from Latin American population have been under-studied in recent meta-analysis. Here, we evaluated the 5-HTTLPR polymorphism in Colombian individuals with idiopathic ASD and reported a non-preferential S or L transmission and a non-association with ASD risk or symptom severity. Moreover, to recognize the allelic frequencies of an under-represented population we also recovered genetic studies from Latin American individuals and compared these frequencies with frequencies from other ethnicities. Results from meta-analysis suggest that short/long frequencies in Latin American are similar to those reported in Caucasian population but different to African and Asian regions.
Assuntos
Transtorno do Espectro Autista/genética , Polimorfismo de Nucleotídeo Único , Proteínas da Membrana Plasmática de Transporte de Serotonina/genética , Povo Asiático/genética , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/patologia , Frequência do Gene , Genótipo , Humanos , América Latina , Índice de Gravidade de Doença , População Branca/genéticaRESUMO
Eighty-five schizophrenic patients being seen on a regular basis in an outpatient clinic were interviewed about information given to them concerning their treatment. The patients were asked about risks and side effects on neuroleptics, coping strategies in regard to side effects, therapeutic effects and diagnosis, knowledge about therapy, and personal evaluation of their information. The results are discussed with respect to both the legal and therapeutic aspects of patients' information. Issues considered include the extent to which highly compliant patients know important facts about their treatment, how satisfied they are with the information given to them, and the implications for informed consent.
