RESUMEN
Metachromatic leukodystrophy (MLD) is a metabolic disease that has recently been investigated as a model for the study of psychosis. We report on two sisters with adult-type MLD who developed psychiatric symptomatology, but differed in their expression of psychotic and depressive symptoms. Association studies have indicated that polymorphisms in genes encoding the serotonin and dopamine transporters and receptors are related to the symptomatology of schizophrenia and/or depression; hence both sisters were genotyped for some of these candidate genes. The sisters shared dopamine receptor D(2) (DRD(2)) c.1047GG (p.311Ser/Ser) and c.-141Cins/ins polymorphisms, which are significantly associated with schizophrenia, but differed in the serotonin transporter gene-linked polymorphic region and serotonin receptor 1A (5-HT(1A)) c.-1019C to G polymorphisms, which may have increased the elder sister's susceptibility to depressive symptoms. Much bigger samples would be needed to gain enough statistical power to develop any hypotheses. This is the first report on genotyping MLD patients for candidate genes for psychiatric disorders, although MLD has been proposed as a model for schizophrenia.
Asunto(s)
Proteínas de Transporte de Dopamina a través de la Membrana Plasmática/genética , Leucodistrofia Metacromática/genética , Leucodistrofia Metacromática/fisiopatología , Polimorfismo Genético , Proteínas de Transporte de Serotonina en la Membrana Plasmática/genética , Adulto , Depresión/genética , Depresión/fisiopatología , Dopamina/metabolismo , Proteínas de Transporte de Dopamina a través de la Membrana Plasmática/metabolismo , Femenino , Genotipo , Humanos , Leucodistrofia Metacromática/psicología , Esquizofrenia/genética , Esquizofrenia/fisiopatología , Serotonina/metabolismo , Proteínas de Transporte de Serotonina en la Membrana Plasmática/metabolismoAsunto(s)
Antipsicóticos/efectos adversos , Creatina Quinasa/sangre , Dibenzotiazepinas/efectos adversos , Adulto , Antipsicóticos/uso terapéutico , Dibenzotiazepinas/uso terapéutico , Sobredosis de Droga , Humanos , Masculino , Fumarato de Quetiapina , Rabdomiólisis/inducido químicamente , Esquizofrenia/complicaciones , Esquizofrenia/tratamiento farmacológicoRESUMEN
This study investigated psychosocial risk factors in adolescents and assessed gender differences in the frequency of their occurrence. A specially designed questionnaire, which included validated scales for the evaluation of depression (Zung Self-rating Depression Scale) and self-esteem (Rosenberg Self-Esteem Scale), was administered to a representative sample of Slovenian adolescents. The final sample consisted of 4,590 high school students of both sexes, aged 14 to 19 years. Data analysis revealed several significant gender differences. Girls more often than boys reported family conflict, personal problems, physical inactivity, attempts to control body weight, use of psychoactive drugs, suicidal ideation, and suicide attempts. Their level of depression was higher and self-esteem lower when compared with their male counterparts. Boys more often than girls indicated that they watched a great deal of television, were the victims of peer violence, and drank alcohol.