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ADVOCATING FOR CHILDREN WITH SPECIAL NEEDS: INVESTIGATING THE GENETICS OF AUTISM Andrea Patrico November 17 th, 2010 Developmental Disorders Genetics Research Program Dr. Eric Morrow
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Developmental Disabilities Who is in this patient population? Why are they at risk?
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Summer Work: Genetics of Autism Diagnosis: Impaired social interaction Impaired communication Stereotyped patterns of behavior, interests, or activities Microarray Testing and Gene Databases Linking Genotype to Phenotype Filipek, PA., et. al. Practice parameter: Screening and diagnosis of autism. Neurology 2000; 55: 468-479.
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Methods Recruitment Clinical Interviews Family Pedigree Diagnosis Birth History/ Development Co-morbidities IQ and ADOS testing Blood Draw & Microarray Testing in Lab Photograph by Frank Giuliani
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Initial Findings Genetically Informative Families Accessing Hispanic Patients Protocol Lack of Research Accessing Adult Patients Lack of Research Long-term Health Outcomes Epilepsy in Autism Affects at least 30% in our Sample Neuroligins, Neurexins, Shank-3, CNTNAP2, SCN1A/2A, SLC9A6, DCX, MEF2C, FOX1, RAB39B, 15q13.3, and various CNVs Miller Mobley/Redux, The Atlantic
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Anticipated Further Findings Important additions to the Polygenic Model of ASD Support for Genetic Testing among Developmentally Disabled Patients Support for Research involving Hispanic and Adult Patients Telling Families’ Stories: Trends in Resource Utilization Navigating the Transition to Adulthood Learn from the Experts!
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Thank You!!! RI Area Health Education Center for your Generous Support! Dr. Eric Morrow Dr. Justyna Piasecka Bernabe Matthew Pescosolido Alma Guerrero Brown Summer Research Assistantship
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