Publications by authors named "Estevao Vadasz"
Article Synopsis
- Researchers found evidence suggesting that cytoskeletal dynamics, crucial for the development of neurons, could be disrupted in autism spectrum disorders (ASD) due to gene mutations or expression changes.
- The study specifically investigated actin cytoskeleton dynamics in stem cells from children with ASD and compared them to controls by examining actin filament behavior after certain activations.
- Results indicated that over half of the ASD patients exhibited abnormal actin filament reconstruction, hinting that these cellular dynamics could contribute to the neuronal issues seen in some ASD patients.
Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-q13, 16p11.2 and 22q13 have been reported as the most frequent. These CNVs exhibit variable clinical expressivity and those at 15q11-q13 and 16p11.
View Article and Find Full Text PDFIdentification of the causes of autism spectrum disorders (ASDs) is hampered by their genetic heterogeneity; however, the different genetic alterations leading to ASD seem to be implicated in the disturbance of common molecular pathways or biological processes. In this scenario, the search for differentially expressed genes (DEGs) between ASD patients and controls is a good alternative to identify the molecular etiology of such disorders. Here, we employed genome-wide expression analysis to compare the transcriptome of stem cells of human exfoliated deciduous teeth (SHEDs) of idiopathic autistic patients (n = 7) and control samples (n = 6).
View Article and Find Full Text PDFA complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder.
Am J Med Genet B Neuropsychiatr Genet
July 2012
Here, we describe a female patient with autism spectrum disorder and dysmorphic features that harbors a complex genetic alteration, involving a de novo balanced translocation t(2;X)(q11;q24), a 5q11 segmental trisomy and a maternally inherited isodisomy on chromosome 5. All the possibly damaging genetic effects of such alterations are discussed. In light of recent findings on ASD genetic causes, the hypothesis that all these alterations might be acting in orchestration and contributing to the phenotype is also considered.
View Article and Find Full Text PDFUnlabelled: The aim of this study was to verify the efficacy of a programme for dental plaque control in autistics. Patients were evaluated on five occasions over a period of 180 days using the following instruments: OHI-S, DMF-T, the Fonnes brushing technique and diet questionnaire. Participants were divided into two groups according to level of co-operation on the programme: Group A (co-operative) and Group B (non-cooperative).
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