ABSTRACT
RESUMOPesquisadores têm identificado expressões mais leves de traços do Transtorno do Espectro do Autismo - TEA em pais e irmãos destes indivíduos, que são definidas como Fenótipo Ampliado do Autismo (FAA). Este estudo investigou o perfil de personalidade de 20 genitores de crianças com o diagnóstico de TEA, utilizando a Bateria Fatorial de Personalidade e o Broad Autism Phenotype Questionnaire. Os resultados apontam para a presença de alguns traços de personalidade (ex: tendência à rigidez e ao retraimento social) que podem, em alguma medida, corresponder às áreas de comprometimento presentes no TEA. Estes achados refletem um campo promissor de estudos no Brasil, sobretudo porque se utilizou um instrumento brasileiro, ainda não empregado em investigações na área do autismo.
ABSTRACTResearchers have identified milder expressions of Autism Spectrum Disorder in parents and siblings of these individuals, which are defined as broader autism phenotype (BAP). This study investigated the personality profile of 20 parents of children diagnosed with ASD. The Factor Personality Battery and the Broad Autism Phenotype Questionnaire were used. The results indicate the presence of some personality traits that might somewhat correspond to the areas of impairment present in ASD individuals. These findings point to a promising field of study, especially due to the use of a Brazilian instrument, not yet employed in research in the area of autism.
ABSTRACT
Autism Spectrum Disorders (ASDs) represent a group of very complex early-onset neurodevelopmental diseases. In this study, we analyzed 5 SNPs (rs2317385, rs5918, rs15908, rs12603582, rs3809865) at the ß3 integrin locus (ITGB3), which has been suggested as a possible susceptibility gene, both as single markers and as part of haplotypes in 209 ASD children and their biological parents. We tested for association with the following: a) DSM-IV ASD diagnosis; b) clinical symptoms common in ASD patients (repetitive behaviors, echolalia, seizures and epilepsy, mood instability, aggression, psychomotor agitation, sleep disorders); and c) dimensional scores obtained with the Autism Screening Questionnaire and the Childhood Autism Rating Scale. These hypotheses were investigated using family-based tests, logistic regression models and analysis of covariance. The family-based tests showed an association with the H5 haplotype (composed by GTCGA alleles, the order of SNPs as above), which was transmitted less often than expected by chance (P=0.006; Pcorr=0.036). The analyses of the clinical symptoms showed a trend for an association with rs12603582 (P=0.008; Pcorr=0.064) and positive results for the haplotype composed of rs15908 and rs12603582 (Pglcorr=0.048; Pindcorr=0.015), both in symptoms of echolalia. Other nominal associations with different variants were found and involved epilepsy/seizures, aggression symptoms and higher ASQ scores. Although our positive results are not definitive, they suggest small effect associations of the ITGB3 gene with both ASD diagnosis and symptoms of echolalia. Other studies are nonetheless needed to fully understand the involvement of this locus on the etiology of ASDs and its different clinical aspects.
