Evidence for Association Between OXTR Gene and ASD Clinical Phenotypes.

Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder characterized by impairments in social behaviors and communication. Oxytocin and its signaling pathway are related to a range of human behaviors, from facial expression recognition to aggressive behaviors, and have been suggested as involved in the etiology of ASD. Our aim was to evaluate the influence of two polymorphisms (rs1042778, rs53576) at the oxytocin receptor gene (OXTR) on ASD diagnosis and on specific ASD-related clinical symptoms (seizures, panic, and aggressive behaviors).

The role of β3 integrin gene variants in Autism Spectrum Disorders--diagnosis and symptomatology.

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 β3 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.

[Follow up of patients with developmental delay and autistic spectrum disorders].

The evolution of autism symptoms during life were revised, from childhood to adulthood. Little information is available. After a search in PubMed, no more than 40 publications address this issue.

Influence of the 5-HTTLPR polymorphism and environmental risk factors in a Brazilian sample of patients with autism spectrum disorders.

The 5-HTTLPR polymorphism of serotonin transporter gene is widely investigated in association studies in autism spectrum disorders (ASD). The results of such studies, however, remain controversial possibly due to the great genetic heterogeneity related to ASD and the lack of evaluation of the triallelic functional structure of 5-HTTLPR. This study tested for association between the 5-HTTLPR and ASD in a Brazilian sample by case-control and family-based association test (FBAT) methods, considering the biallelic and triallelic structures of this polymorphism.

[Surgical indications in pediatric epilepsy].

With the goal of presenting follow-up data from patients seen at the Refractory Epilepsy out-patient clinic of the Hospital de Clínicas de Porto Alegre (HCPA), Brazil, we reviewed the literature on childhood and adolescent epilepsy and epileptic syndromes with indication for surgical treatment. The International League Against Epilepsy's Subcommission for Pediatric Epilepsy Surgery recommends surgical evaluation for cortical dysplasia, tuberous sclerosis complex, polymicrogyria, hypothalamic hamartoma, hemispheric syndromes, Sturge-Weber, Rasmussen, Landau-Kleffner and other situations such as tumors or cerebrovascular injury. The Subcommission proposes the creation of referral centers with functional methods of evaluation, structural imaging, and a multidisciplinary team that includes neurologists, neurosurgeons, neurophysiologists, neuropediatricians, neuropsychologists, pathologists, neuroradiologists and eletroneurophysiology technicians.