| Grant number: | 11/14116-5 |
| Support Opportunities: | Regular Research Grants |
| Start date: | November 01, 2011 |
| End date: | October 31, 2013 |
| Field of knowledge: | Health Sciences - Medicine - Medical Clinics |
| Principal Investigator: | Marcelo Masruha Rodrigues |
| Grantee: | Marcelo Masruha Rodrigues |
| Host Institution: | Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil |
| Associated researchers: | Luiz Celso Pereira Vilanova ; Michele Gea Guimarães ; Patrícia Maria de Carvalho Aguiar |
Abstract
Childhood autism and Asperger's syndrome belong to a family of neurodevelopmental disorders called Pervasive Development Disorders. This group is characterized by qualitative abnormalities in reciprocal social interactions and modes of communication as well as a restricted repertoire of stereotyped, repetitive interests and activities. Autism has become one of the most studied disorders in neuropsychiatry and interest in the area is amply justified in view of both the severity of this disorder and the social impact it produces. Despite decades of research and investigations, its etiology remains elusive, because it is a complex and heterogeneous disorder with varying degrees of severity. The spectrum of clinical presentations and suggests a neurobiological heterogeneity, probably influenced by a combination of genetic and environmental factors. In recent years, several genes have been identified, contributing to the elucidation of the pathophysiology of the disease. Through the analysis of mutations in candidate genes and analysis of clinical characteristics of the two groups want the short term, within the implementation period of two years, to correlate the clinical and molecular findings, since no studies that differentiate genetic changes in autistic children and patients with Aspeger syndrome, or that these changes relate to the behavioral characteristics and functional abilities of patients. The long term plan to create a database of genetic and clinical data, enabling new research and analysis, identification of new genes responsible for childhood autism and Asperger syndrome, increase the number of patients studied and established collaborations with other research centers, national and internacional multicenter projects and promote, through research papers and participation in events, dissemination of knowledge to the scientific community to contribute to the identification of biomarkers and the discovery of more effective therapies for these disorders. (AU)
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