Navegando por Palavras-chave "síndrome de asperger"

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    Desempenho funcional global e análise molecular no autismo infantil e síndrome de asperger
    (Universidade Federal de São Paulo (UNIFESP), 2015-02-28) Pozzato, Michele Gea Guimaraes [UNIFESP]; Vilanova, Luiz Celso Pereira Vilanova [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Introduction: Autism (A) and Asperger syndrome (AS) belong to a family of neuro-developmental disorders called Pervasive Development Disorders (PDD), characterized by communication deficits, a lack of reciprocal social interaction, as well as restricted, stereotypic, and ritualized patterns of interests and behavior. Several studies have show significant deficits in different areas of development , as well as a complex genetic basis, involving many genes, contributing to the different phenotypes presented by these disorders. Objectives:To determine whether AI and SA differ in phenotype, verified by Global Functional Performance, and in genetic variants in FOXP2, WNT2, EN2 and PARK2 genes; to correlate phenotypic with genotype findings. Methods: A cross-sectional study involving 98 patients aged 3 to18 years of both genders previously diagnosed with A (45) or AS (53). The Brazilian version of the Pediatric Evaluation of Disability Inventory (PEDI) was administered in the form of a structured interview with the caregiver and direct observation. Molecular analysis was performed by Sanger sequencing of FOXP2, WNT2, EN2 and PARK2 genes and gene dosage of PARK2 by Real TimePCR. Results: Patients with AS had significantly better social function than patients with A, who needed more assistance in this area. However, in AI, the scores were significantly better than SA, related to self-care and mobility activities, requiring a lower level of care. Among the molecular findings, we found significantly different variants in FOXP2 gene between A and SA, and in EN2 gene, between SA and healthy controls. Conclusions: Our findings show that A and SA exhibit phenotypic differences, assessed by global functional performance as well as genotypic differences in FOXP2 and EN2, it is possible to establish correlation between them.