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
Developmental Disabilities Who is in this patient population? Why are they at risk?
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:
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
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
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!
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